Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Identifieur interne : 004581 ( Main/Exploration ); précédent : 004580; suivant : 004582Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Auteurs : Graciana Jaureguiberry [Royaume-Uni] ; Muriel De La Dure-Molla [France] ; David Parry [Royaume-Uni] ; Mickael Quentric [Belgique] ; Nina Himmerkus [Allemagne] ; Toshiyasu Koike [Japon] ; James Poulter [Royaume-Uni] ; Enriko Klootwijk [Royaume-Uni] ; Steven L. Robinette [Royaume-Uni] ; Alexander J. Howie [Royaume-Uni] ; Vaksha Patel [Royaume-Uni] ; Marie-Lucile Figueres [France] ; Horia C. Stanescu [Royaume-Uni] ; Naomi Issler [Royaume-Uni] ; Jeremy K. Nicholson [Royaume-Uni] ; Detlef Bockenhauer [Royaume-Uni] ; Christopher Laing [Royaume-Uni] ; Stephen B. Walsh [Royaume-Uni] ; David A. Mccredie [Australie] ; Sue Povey [Royaume-Uni] ; Audrey Asselin [France] ; Arnaud Picard [France] ; Aurore Coulomb [France] ; Alan J. Medlar [Royaume-Uni] ; Isabelle Bailleul-Forestier [France] ; Alain Verloes [France] ; Cedric Le Caignec [France] ; Gwenaelle Roussey [France] ; Julien Guiol [France] ; Bertrand Isidor [France] ; Clare Logan [Royaume-Uni] ; Roger Shore [Royaume-Uni] ; Colin Johnson [Royaume-Uni] ; Christopher Inglehearn [Royaume-Uni] ; Suhaila Al-Bahlani ; Matthieu Schmittbuhl [France] ; François Clauss [France] ; Mathilde Huckert [France] ; Virginie Laugel [France] ; Emmanuelle Ginglinger [France] ; Sandra Pajarola [Suisse] ; Giuseppina Spartà [Suisse] ; Deborah Bartholdi [Suisse] ; Anita Rauch [Suisse] ; Marie-Claude Addor [Suisse] ; Paulo M. Yamaguti [Brésil] ; Heloisa P. Safatle [Brésil] ; Ana Carolina Acevedo [Brésil] ; Hercílio Martelli-Júnior [Brésil] ; Pedro E. Dos Santos Netos [Brésil] ; Ricardo D. Coletta [Brésil] ; Sandra Gruessel [Allemagne] ; Carolin Sandmann [Allemagne] ; Denise Ruehmann [Allemagne] ; Craig B. Langman [États-Unis] ; Steven J. Scheinman [États-Unis] ; Didem Ozdemir-Ozenen [Turquie] ; Thomas C. Hart [États-Unis] ; P. Suzanne Hart [États-Unis] ; Ute Neugebauer [Allemagne] ; Eberhard Schlatter [Allemagne] ; Pascal Houillier [France] ; William A. Gahl [États-Unis] ; Miikka Vikkula [Belgique] ; Agnès Bloch-Zupan [France] ; Markus Bleich [Allemagne] ; Hiroshi Kitagawa [Japon] ; Robert J. Unwin [Royaume-Uni] ; Alan Mighell [Royaume-Uni] ; Ariane Berdal [France] ; Robert Kleta [Royaume-Uni]Source :
- Nephron. Physiology [ 1660-8151 ] ; 2013.
Abstract
Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.
We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.
All patients had bi-allelic
This au-tosomal recessive disorder, also known as enamel renal syndrome, of
Url:
DOI: 10.1159/000349989
PubMed: 23434854
PubMed Central: 3782194
Affiliations:
- Allemagne, Australie, Belgique, Brésil, France, Japon, Royaume-Uni, Suisse, Turquie, États-Unis
- Alsace (région administrative), Angleterre, Canton de Vaud, Grand Est, Grand Londres, Illinois, Pays de la Loire, Région de Bruxelles-Capitale, Schleswig-Holstein, Yorkshire-et-Humber, État de São Paulo, Île-de-France
- Bruxelles, Chicago, Kiel, Lausanne, Leeds, Londres, Louvain-la-Neuve, Mulhouse, Nantes, Paris, São Paulo, Zurich
- University College de Londres, Université catholique de Louvain, Université de Leeds, Université de Zurich, Université de l'Illinois à Chicago
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002787
- to stream Pmc, to step Curation: 002637
- to stream Pmc, to step Checkpoint: 001987
- to stream Ncbi, to step Merge: 001145
- to stream Ncbi, to step Curation: 001145
- to stream Ncbi, to step Checkpoint: 001145
- to stream Main, to step Merge: 004680
- to stream Main, to step Curation: 004581
Le document en format XML
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uniqKey="De La Dure Molla M" first="Muriel" last="De La Dure-Molla">Muriel De La Dure-Molla</name><affiliation wicri:level="3"><nlm:aff id="aff2">Rothschild Dental Hospital Service, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Rothschild Dental Hospital Service, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Parry, David" sort="Parry, David" uniqKey="Parry D" first="David" last="Parry">David Parry</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region 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id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Koike, Toshiyasu" sort="Koike, Toshiyasu" uniqKey="Koike T" first="Toshiyasu" last="Koike">Toshiyasu Koike</name><affiliation wicri:level="1"><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Biochemistry, Kobe Pharmaceutical University, Kobe</wicri:regionArea><wicri:noRegion>Kobe</wicri:noRegion></affiliation></author><author><name sortKey="Poulter, James" sort="Poulter, James" uniqKey="Poulter J" first="James" last="Poulter">James Poulter</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Klootwijk, Enriko" sort="Klootwijk, Enriko" uniqKey="Klootwijk E" first="Enriko" last="Klootwijk">Enriko Klootwijk</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Robinette, Steven L" sort="Robinette, Steven L" uniqKey="Robinette S" first="Steven L." last="Robinette">Steven L. Robinette</name><affiliation wicri:level="3"><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Biomolecular Medicine, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Howie, Alexander J" sort="Howie, Alexander J" uniqKey="Howie A" first="Alexander J." last="Howie">Alexander J. Howie</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Patel, Vaksha" sort="Patel, Vaksha" uniqKey="Patel V" first="Vaksha" last="Patel">Vaksha Patel</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Figueres, Marie Lucile" sort="Figueres, Marie Lucile" uniqKey="Figueres M" first="Marie-Lucile" last="Figueres">Marie-Lucile Figueres</name><affiliation wicri:level="3"><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Cordeliers Research Center, Paris-Descartes University, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Stanescu, Horia C" sort="Stanescu, Horia C" uniqKey="Stanescu H" first="Horia C." last="Stanescu">Horia C. Stanescu</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Issler, Naomi" sort="Issler, Naomi" uniqKey="Issler N" first="Naomi" last="Issler">Naomi Issler</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Nicholson, Jeremy K" sort="Nicholson, Jeremy K" uniqKey="Nicholson J" first="Jeremy K." last="Nicholson">Jeremy K. Nicholson</name><affiliation wicri:level="3"><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Biomolecular Medicine, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bockenhauer, Detlef" sort="Bockenhauer, Detlef" uniqKey="Bockenhauer D" first="Detlef" last="Bockenhauer">Detlef Bockenhauer</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Laing, Christopher" sort="Laing, Christopher" uniqKey="Laing C" first="Christopher" last="Laing">Christopher Laing</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Walsh, Stephen B" sort="Walsh, Stephen B" uniqKey="Walsh S" first="Stephen B." last="Walsh">Stephen B. Walsh</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Mccredie, David A" sort="Mccredie, David A" uniqKey="Mccredie D" first="David A." last="Mccredie">David A. Mccredie</name><affiliation wicri:level="1"><nlm:aff id="aff9">Royal Children's Hospital, Melbourne, Vic., Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Children's Hospital, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author><author><name sortKey="Povey, Sue" sort="Povey, Sue" uniqKey="Povey S" first="Sue" last="Povey">Sue Povey</name><affiliation wicri:level="3"><nlm:aff id="aff10">Department of Genetics, Evolution and Environment, UCL, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Genetics, Evolution and Environment, UCL, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Asselin, Audrey" sort="Asselin, Audrey" uniqKey="Asselin A" first="Audrey" last="Asselin">Audrey Asselin</name><affiliation wicri:level="1"><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS 872, University Paris-Diderot</wicri:regionArea><wicri:noRegion>University Paris-Diderot</wicri:noRegion><wicri:noRegion>University Paris-Diderot</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name><affiliation wicri:level="1"><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS 872, University Paris-Diderot</wicri:regionArea><wicri:noRegion>University Paris-Diderot</wicri:noRegion><wicri:noRegion>University Paris-Diderot</wicri:noRegion></affiliation></author><author><name sortKey="Coulomb, Aurore" sort="Coulomb, Aurore" uniqKey="Coulomb A" first="Aurore" last="Coulomb">Aurore Coulomb</name><affiliation wicri:level="3"><nlm:aff id="aff12">Pathology service, Armand Trousseau Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pathology service, Armand Trousseau Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Medlar, Alan J" sort="Medlar, Alan J" uniqKey="Medlar A" first="Alan J." last="Medlar">Alan J. Medlar</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Bailleul Forestier, Isabelle" sort="Bailleul Forestier, Isabelle" uniqKey="Bailleul Forestier I" first="Isabelle" last="Bailleul-Forestier">Isabelle Bailleul-Forestier</name><affiliation wicri:level="3"><nlm:aff id="aff13">Toulouse Hospital, Sabatier University, Toulouse, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Toulouse Hospital, Sabatier University, Toulouse, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="3"><nlm:aff id="aff14">Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><affiliation wicri:level="3"><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Génétique, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Roussey, Gwenaelle" sort="Roussey, Gwenaelle" uniqKey="Roussey G" first="Gwenaelle" last="Roussey">Gwenaelle Roussey</name><affiliation wicri:level="3"><nlm:aff id="aff16">Pédiatrie, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pédiatrie, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Guiol, Julien" sort="Guiol, Julien" uniqKey="Guiol J" first="Julien" last="Guiol">Julien Guiol</name><affiliation wicri:level="3"><nlm:aff id="aff17">Stomatologie, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Stomatologie, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="3"><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Génétique, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Logan, Clare" sort="Logan, Clare" uniqKey="Logan C" first="Clare" last="Logan">Clare Logan</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Shore, Roger" sort="Shore, Roger" uniqKey="Shore R" first="Roger" last="Shore">Roger Shore</name><affiliation wicri:level="4"><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds Dental Institute, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Johnson, Colin" sort="Johnson, Colin" uniqKey="Johnson C" first="Colin" last="Johnson">Colin Johnson</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Inglehearn, Christopher" sort="Inglehearn, Christopher" uniqKey="Inglehearn C" first="Christopher" last="Inglehearn">Christopher Inglehearn</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Al Bahlani, Suhaila" sort="Al Bahlani, Suhaila" uniqKey="Al Bahlani S" first="Suhaila" last="Al-Bahlani">Suhaila Al-Bahlani</name><affiliation><nlm:aff id="aff19">Al-Nahda Hospital, Muscat, Sultanate of Oman</nlm:aff><wicri:noCountry code="subfield">Sultanate of Oman</wicri:noCountry></affiliation></author><author><name sortKey="Schmittbuhl, Matthieu" sort="Schmittbuhl, Matthieu" uniqKey="Schmittbuhl M" first="Matthieu" last="Schmittbuhl">Matthieu Schmittbuhl</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Clauss, Francois" sort="Clauss, Francois" uniqKey="Clauss F" first="François" last="Clauss">François Clauss</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Huckert, Mathilde" sort="Huckert, Mathilde" uniqKey="Huckert M" first="Mathilde" last="Huckert">Mathilde Huckert</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Laugel, Virginie" sort="Laugel, Virginie" uniqKey="Laugel V" first="Virginie" last="Laugel">Virginie Laugel</name><affiliation wicri:level="3"><nlm:aff id="aff21">IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Ginglinger, Emmanuelle" sort="Ginglinger, Emmanuelle" uniqKey="Ginglinger E" first="Emmanuelle" last="Ginglinger">Emmanuelle Ginglinger</name><affiliation wicri:level="3"><nlm:aff id="aff22">Service de Génétique, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Pajarola, Sandra" sort="Pajarola, Sandra" uniqKey="Pajarola S" first="Sandra" last="Pajarola">Sandra Pajarola</name><affiliation wicri:level="4"><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University of Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region><settlement type="city">Zurich</settlement></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Sparta, Giuseppina" sort="Sparta, Giuseppina" uniqKey="Sparta G" first="Giuseppina" last="Spartà">Giuseppina Spartà</name><affiliation wicri:level="3"><nlm:aff id="aff24">Nephrology Unit, University Children's Hospital, Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Nephrology Unit, University Children's Hospital, Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><affiliation wicri:level="4"><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University of Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region><settlement type="city">Zurich</settlement></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="4"><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University of Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region><settlement type="city">Zurich</settlement></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><affiliation wicri:level="3"><nlm:aff id="aff25">Service de Génétique Médicale, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service de Génétique Médicale, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Yamaguti, Paulo M" sort="Yamaguti, Paulo M" uniqKey="Yamaguti P" first="Paulo M." last="Yamaguti">Paulo M. Yamaguti</name><affiliation wicri:level="3"><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Health Sciences School, University of Brasilia, Brasilia, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Safatle, Heloisa P" sort="Safatle, Heloisa P" uniqKey="Safatle H" first="Heloisa P." last="Safatle">Heloisa P. Safatle</name><affiliation wicri:level="3"><nlm:aff id="aff27">Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name><affiliation wicri:level="3"><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Health Sciences School, University of Brasilia, Brasilia, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Martelli Junior, Hercilio" sort="Martelli Junior, Hercilio" uniqKey="Martelli Junior H" first="Hercílio" last="Martelli-Júnior">Hercílio Martelli-Júnior</name><affiliation wicri:level="3"><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>State University of Montes Claros, Minas Gerais, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Dos Santos Netos, Pedro E" sort="Dos Santos Netos, Pedro E" uniqKey="Dos Santos Netos P" first="Pedro E." last="Dos Santos Netos">Pedro E. Dos Santos Netos</name><affiliation wicri:level="3"><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>State University of Montes Claros, Minas Gerais, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Coletta, Ricardo D" sort="Coletta, Ricardo D" uniqKey="Coletta R" first="Ricardo D." last="Coletta">Ricardo D. Coletta</name><affiliation wicri:level="3"><nlm:aff id="aff29">Dental School, State University of Campinas, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Dental School, State University of Campinas, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Gruessel, Sandra" sort="Gruessel, Sandra" uniqKey="Gruessel S" first="Sandra" last="Gruessel">Sandra Gruessel</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Sandmann, Carolin" sort="Sandmann, Carolin" uniqKey="Sandmann C" first="Carolin" last="Sandmann">Carolin Sandmann</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Ruehmann, Denise" sort="Ruehmann, Denise" uniqKey="Ruehmann D" first="Denise" last="Ruehmann">Denise Ruehmann</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Langman, Craig B" sort="Langman, Craig B" uniqKey="Langman C" first="Craig B." last="Langman">Craig B. Langman</name><affiliation wicri:level="1"><nlm:aff id="aff30">Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa.</wicri:regionArea><wicri:noRegion>Pa.</wicri:noRegion></affiliation></author><author><name sortKey="Scheinman, Steven J" sort="Scheinman, Steven J" uniqKey="Scheinman S" first="Steven J." last="Scheinman">Steven J. Scheinman</name><affiliation wicri:level="1"><nlm:aff id="aff31">The Commonwealth Medical College, Scranton, Pa., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Commonwealth Medical College, Scranton, Pa.</wicri:regionArea><wicri:noRegion>Pa.</wicri:noRegion></affiliation></author><author><name sortKey="Ozdemir Ozenen, Didem" sort="Ozdemir Ozenen, Didem" uniqKey="Ozdemir Ozenen D" first="Didem" last="Ozdemir-Ozenen">Didem Ozdemir-Ozenen</name><affiliation wicri:level="1"><nlm:aff id="aff32">Pedodontics, Yeditepe University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Pedodontics, Yeditepe University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name><affiliation wicri:level="4"><nlm:aff id="aff33">Periodontics, University of Illinois at Chicago, Chicago, Ill., Md., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Periodontics, University of Illinois at Chicago, Chicago, Ill., Md.</wicri:regionArea><orgName type="university">Université de l'Illinois à Chicago</orgName><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name><affiliation wicri:level="1"><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>NHGRI, NIH, Bethesda, Md.</wicri:regionArea><wicri:noRegion>Md.</wicri:noRegion></affiliation></author><author><name sortKey="Neugebauer, Ute" sort="Neugebauer, Ute" uniqKey="Neugebauer U" first="Ute" last="Neugebauer">Ute Neugebauer</name><affiliation wicri:level="1"><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Internal Medicine D, University of Muenster, Muenster</wicri:regionArea><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion></affiliation></author><author><name sortKey="Schlatter, Eberhard" sort="Schlatter, Eberhard" uniqKey="Schlatter E" first="Eberhard" last="Schlatter">Eberhard Schlatter</name><affiliation wicri:level="1"><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Internal Medicine D, University of Muenster, Muenster</wicri:regionArea><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion></affiliation></author><author><name sortKey="Houillier, Pascal" sort="Houillier, Pascal" uniqKey="Houillier P" first="Pascal" last="Houillier">Pascal Houillier</name><affiliation wicri:level="3"><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Cordeliers Research Center, Paris-Descartes University, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><affiliation wicri:level="1"><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>NHGRI, NIH, Bethesda, Md.</wicri:regionArea><wicri:noRegion>Md.</wicri:noRegion></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="4"><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Bloch Zupan, Agnes" sort="Bloch Zupan, Agnes" uniqKey="Bloch Zupan A" first="Agnès" last="Bloch-Zupan">Agnès Bloch-Zupan</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Bleich, Markus" sort="Bleich, Markus" uniqKey="Bleich M" first="Markus" last="Bleich">Markus Bleich</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Kitagawa, Hiroshi" sort="Kitagawa, Hiroshi" uniqKey="Kitagawa H" first="Hiroshi" last="Kitagawa">Hiroshi Kitagawa</name><affiliation wicri:level="1"><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Biochemistry, Kobe Pharmaceutical University, Kobe</wicri:regionArea><wicri:noRegion>Kobe</wicri:noRegion></affiliation></author><author><name sortKey="Unwin, Robert J" sort="Unwin, Robert J" uniqKey="Unwin R" first="Robert J." last="Unwin">Robert J. Unwin</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Mighell, Alan" sort="Mighell, Alan" uniqKey="Mighell A" first="Alan" last="Mighell">Alan Mighell</name><affiliation wicri:level="4"><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds Dental Institute, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><affiliation wicri:level="1"><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS 872, University Paris-Diderot</wicri:regionArea><wicri:noRegion>University Paris-Diderot</wicri:noRegion><wicri:noRegion>University Paris-Diderot</wicri:noRegion></affiliation></author><author><name sortKey="Kleta, Robert" sort="Kleta, Robert" uniqKey="Kleta R" first="Robert" last="Kleta">Robert Kleta</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23434854</idno><idno type="pmc">3782194</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194</idno><idno type="RBID">PMC:3782194</idno><idno type="doi">10.1159/000349989</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002787</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002787</idno><idno type="wicri:Area/Pmc/Curation">002637</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002637</idno><idno type="wicri:Area/Pmc/Checkpoint">001987</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001987</idno><idno type="wicri:Area/Ncbi/Merge">001145</idno><idno type="wicri:Area/Ncbi/Curation">001145</idno><idno type="wicri:Area/Ncbi/Checkpoint">001145</idno><idno type="wicri:doubleKey">1660-8151:2013:Jaureguiberry G:nephrocalcinosis:enamel:renal</idno><idno type="wicri:Area/Main/Merge">004680</idno><idno type="wicri:Area/Main/Curation">004581</idno><idno type="wicri:Area/Main/Exploration">004581</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive <bold><italic>FAM20A</italic></bold> Mutations</title><author><name sortKey="Jaureguiberry, Graciana" sort="Jaureguiberry, Graciana" uniqKey="Jaureguiberry G" first="Graciana" last="Jaureguiberry">Graciana Jaureguiberry</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="De La Dure Molla, Muriel" sort="De La Dure Molla, Muriel" uniqKey="De La Dure Molla M" first="Muriel" last="De La Dure-Molla">Muriel De La Dure-Molla</name><affiliation wicri:level="3"><nlm:aff id="aff2">Rothschild Dental Hospital Service, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Rothschild Dental Hospital Service, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Parry, David" sort="Parry, David" uniqKey="Parry D" first="David" last="Parry">David Parry</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Quentric, Mickael" sort="Quentric, Mickael" uniqKey="Quentric M" first="Mickael" last="Quentric">Mickael Quentric</name><affiliation wicri:level="4"><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Himmerkus, Nina" sort="Himmerkus, Nina" uniqKey="Himmerkus N" first="Nina" last="Himmerkus">Nina Himmerkus</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Koike, Toshiyasu" sort="Koike, Toshiyasu" uniqKey="Koike T" first="Toshiyasu" last="Koike">Toshiyasu Koike</name><affiliation wicri:level="1"><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Biochemistry, Kobe Pharmaceutical University, Kobe</wicri:regionArea><wicri:noRegion>Kobe</wicri:noRegion></affiliation></author><author><name sortKey="Poulter, James" sort="Poulter, James" uniqKey="Poulter J" first="James" last="Poulter">James Poulter</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Klootwijk, Enriko" sort="Klootwijk, Enriko" uniqKey="Klootwijk E" first="Enriko" last="Klootwijk">Enriko Klootwijk</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Robinette, Steven L" sort="Robinette, Steven L" uniqKey="Robinette S" first="Steven L." last="Robinette">Steven L. Robinette</name><affiliation wicri:level="3"><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Biomolecular Medicine, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Howie, Alexander J" sort="Howie, Alexander J" uniqKey="Howie A" first="Alexander J." last="Howie">Alexander J. Howie</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Patel, Vaksha" sort="Patel, Vaksha" uniqKey="Patel V" first="Vaksha" last="Patel">Vaksha Patel</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Figueres, Marie Lucile" sort="Figueres, Marie Lucile" uniqKey="Figueres M" first="Marie-Lucile" last="Figueres">Marie-Lucile Figueres</name><affiliation wicri:level="3"><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Cordeliers Research Center, Paris-Descartes University, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Stanescu, Horia C" sort="Stanescu, Horia C" uniqKey="Stanescu H" first="Horia C." last="Stanescu">Horia C. Stanescu</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Issler, Naomi" sort="Issler, Naomi" uniqKey="Issler N" first="Naomi" last="Issler">Naomi Issler</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Nicholson, Jeremy K" sort="Nicholson, Jeremy K" uniqKey="Nicholson J" first="Jeremy K." last="Nicholson">Jeremy K. Nicholson</name><affiliation wicri:level="3"><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Biomolecular Medicine, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bockenhauer, Detlef" sort="Bockenhauer, Detlef" uniqKey="Bockenhauer D" first="Detlef" last="Bockenhauer">Detlef Bockenhauer</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Laing, Christopher" sort="Laing, Christopher" uniqKey="Laing C" first="Christopher" last="Laing">Christopher Laing</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Walsh, Stephen B" sort="Walsh, Stephen B" uniqKey="Walsh S" first="Stephen B." last="Walsh">Stephen B. Walsh</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Mccredie, David A" sort="Mccredie, David A" uniqKey="Mccredie D" first="David A." last="Mccredie">David A. Mccredie</name><affiliation wicri:level="1"><nlm:aff id="aff9">Royal Children's Hospital, Melbourne, Vic., Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Children's Hospital, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author><author><name sortKey="Povey, Sue" sort="Povey, Sue" uniqKey="Povey S" first="Sue" last="Povey">Sue Povey</name><affiliation wicri:level="3"><nlm:aff id="aff10">Department of Genetics, Evolution and Environment, UCL, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Genetics, Evolution and Environment, UCL, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Asselin, Audrey" sort="Asselin, Audrey" uniqKey="Asselin A" first="Audrey" last="Asselin">Audrey Asselin</name><affiliation wicri:level="1"><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS 872, University Paris-Diderot</wicri:regionArea><wicri:noRegion>University Paris-Diderot</wicri:noRegion><wicri:noRegion>University Paris-Diderot</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name><affiliation wicri:level="1"><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS 872, University Paris-Diderot</wicri:regionArea><wicri:noRegion>University Paris-Diderot</wicri:noRegion><wicri:noRegion>University Paris-Diderot</wicri:noRegion></affiliation></author><author><name sortKey="Coulomb, Aurore" sort="Coulomb, Aurore" uniqKey="Coulomb A" first="Aurore" last="Coulomb">Aurore Coulomb</name><affiliation wicri:level="3"><nlm:aff id="aff12">Pathology service, Armand Trousseau Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pathology service, Armand Trousseau Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Medlar, Alan J" sort="Medlar, Alan J" uniqKey="Medlar A" first="Alan J." last="Medlar">Alan J. Medlar</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Bailleul Forestier, Isabelle" sort="Bailleul Forestier, Isabelle" uniqKey="Bailleul Forestier I" first="Isabelle" last="Bailleul-Forestier">Isabelle Bailleul-Forestier</name><affiliation wicri:level="3"><nlm:aff id="aff13">Toulouse Hospital, Sabatier University, Toulouse, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Toulouse Hospital, Sabatier University, Toulouse, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="3"><nlm:aff id="aff14">Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><affiliation wicri:level="3"><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Génétique, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Roussey, Gwenaelle" sort="Roussey, Gwenaelle" uniqKey="Roussey G" first="Gwenaelle" last="Roussey">Gwenaelle Roussey</name><affiliation wicri:level="3"><nlm:aff id="aff16">Pédiatrie, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pédiatrie, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Guiol, Julien" sort="Guiol, Julien" uniqKey="Guiol J" first="Julien" last="Guiol">Julien Guiol</name><affiliation wicri:level="3"><nlm:aff id="aff17">Stomatologie, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Stomatologie, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="3"><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Génétique, CHU de Nantes, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Logan, Clare" sort="Logan, Clare" uniqKey="Logan C" first="Clare" last="Logan">Clare Logan</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Shore, Roger" sort="Shore, Roger" uniqKey="Shore R" first="Roger" last="Shore">Roger Shore</name><affiliation wicri:level="4"><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds Dental Institute, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Johnson, Colin" sort="Johnson, Colin" uniqKey="Johnson C" first="Colin" last="Johnson">Colin Johnson</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Inglehearn, Christopher" sort="Inglehearn, Christopher" uniqKey="Inglehearn C" first="Christopher" last="Inglehearn">Christopher Inglehearn</name><affiliation wicri:level="4"><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Al Bahlani, Suhaila" sort="Al Bahlani, Suhaila" uniqKey="Al Bahlani S" first="Suhaila" last="Al-Bahlani">Suhaila Al-Bahlani</name><affiliation><nlm:aff id="aff19">Al-Nahda Hospital, Muscat, Sultanate of Oman</nlm:aff><wicri:noCountry code="subfield">Sultanate of Oman</wicri:noCountry></affiliation></author><author><name sortKey="Schmittbuhl, Matthieu" sort="Schmittbuhl, Matthieu" uniqKey="Schmittbuhl M" first="Matthieu" last="Schmittbuhl">Matthieu Schmittbuhl</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Clauss, Francois" sort="Clauss, Francois" uniqKey="Clauss F" first="François" last="Clauss">François Clauss</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Huckert, Mathilde" sort="Huckert, Mathilde" uniqKey="Huckert M" first="Mathilde" last="Huckert">Mathilde Huckert</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Laugel, Virginie" sort="Laugel, Virginie" uniqKey="Laugel V" first="Virginie" last="Laugel">Virginie Laugel</name><affiliation wicri:level="3"><nlm:aff id="aff21">IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Ginglinger, Emmanuelle" sort="Ginglinger, Emmanuelle" uniqKey="Ginglinger E" first="Emmanuelle" last="Ginglinger">Emmanuelle Ginglinger</name><affiliation wicri:level="3"><nlm:aff id="aff22">Service de Génétique, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Pajarola, Sandra" sort="Pajarola, Sandra" uniqKey="Pajarola S" first="Sandra" last="Pajarola">Sandra Pajarola</name><affiliation wicri:level="4"><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University of Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region><settlement type="city">Zurich</settlement></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Sparta, Giuseppina" sort="Sparta, Giuseppina" uniqKey="Sparta G" first="Giuseppina" last="Spartà">Giuseppina Spartà</name><affiliation wicri:level="3"><nlm:aff id="aff24">Nephrology Unit, University Children's Hospital, Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Nephrology Unit, University Children's Hospital, Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><affiliation wicri:level="4"><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University of Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region><settlement type="city">Zurich</settlement></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="4"><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University of Zurich, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region><settlement type="city">Zurich</settlement></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><affiliation wicri:level="3"><nlm:aff id="aff25">Service de Génétique Médicale, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service de Génétique Médicale, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Yamaguti, Paulo M" sort="Yamaguti, Paulo M" uniqKey="Yamaguti P" first="Paulo M." last="Yamaguti">Paulo M. Yamaguti</name><affiliation wicri:level="3"><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Health Sciences School, University of Brasilia, Brasilia, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Safatle, Heloisa P" sort="Safatle, Heloisa P" uniqKey="Safatle H" first="Heloisa P." last="Safatle">Heloisa P. Safatle</name><affiliation wicri:level="3"><nlm:aff id="aff27">Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name><affiliation wicri:level="3"><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Health Sciences School, University of Brasilia, Brasilia, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Martelli Junior, Hercilio" sort="Martelli Junior, Hercilio" uniqKey="Martelli Junior H" first="Hercílio" last="Martelli-Júnior">Hercílio Martelli-Júnior</name><affiliation wicri:level="3"><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>State University of Montes Claros, Minas Gerais, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Dos Santos Netos, Pedro E" sort="Dos Santos Netos, Pedro E" uniqKey="Dos Santos Netos P" first="Pedro E." last="Dos Santos Netos">Pedro E. Dos Santos Netos</name><affiliation wicri:level="3"><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>State University of Montes Claros, Minas Gerais, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Coletta, Ricardo D" sort="Coletta, Ricardo D" uniqKey="Coletta R" first="Ricardo D." last="Coletta">Ricardo D. Coletta</name><affiliation wicri:level="3"><nlm:aff id="aff29">Dental School, State University of Campinas, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Dental School, State University of Campinas, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Gruessel, Sandra" sort="Gruessel, Sandra" uniqKey="Gruessel S" first="Sandra" last="Gruessel">Sandra Gruessel</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Sandmann, Carolin" sort="Sandmann, Carolin" uniqKey="Sandmann C" first="Carolin" last="Sandmann">Carolin Sandmann</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Ruehmann, Denise" sort="Ruehmann, Denise" uniqKey="Ruehmann D" first="Denise" last="Ruehmann">Denise Ruehmann</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Langman, Craig B" sort="Langman, Craig B" uniqKey="Langman C" first="Craig B." last="Langman">Craig B. Langman</name><affiliation wicri:level="1"><nlm:aff id="aff30">Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa.</wicri:regionArea><wicri:noRegion>Pa.</wicri:noRegion></affiliation></author><author><name sortKey="Scheinman, Steven J" sort="Scheinman, Steven J" uniqKey="Scheinman S" first="Steven J." last="Scheinman">Steven J. Scheinman</name><affiliation wicri:level="1"><nlm:aff id="aff31">The Commonwealth Medical College, Scranton, Pa., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Commonwealth Medical College, Scranton, Pa.</wicri:regionArea><wicri:noRegion>Pa.</wicri:noRegion></affiliation></author><author><name sortKey="Ozdemir Ozenen, Didem" sort="Ozdemir Ozenen, Didem" uniqKey="Ozdemir Ozenen D" first="Didem" last="Ozdemir-Ozenen">Didem Ozdemir-Ozenen</name><affiliation wicri:level="1"><nlm:aff id="aff32">Pedodontics, Yeditepe University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Pedodontics, Yeditepe University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name><affiliation wicri:level="4"><nlm:aff id="aff33">Periodontics, University of Illinois at Chicago, Chicago, Ill., Md., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Periodontics, University of Illinois at Chicago, Chicago, Ill., Md.</wicri:regionArea><orgName type="university">Université de l'Illinois à Chicago</orgName><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name><affiliation wicri:level="1"><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>NHGRI, NIH, Bethesda, Md.</wicri:regionArea><wicri:noRegion>Md.</wicri:noRegion></affiliation></author><author><name sortKey="Neugebauer, Ute" sort="Neugebauer, Ute" uniqKey="Neugebauer U" first="Ute" last="Neugebauer">Ute Neugebauer</name><affiliation wicri:level="1"><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Internal Medicine D, University of Muenster, Muenster</wicri:regionArea><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion></affiliation></author><author><name sortKey="Schlatter, Eberhard" sort="Schlatter, Eberhard" uniqKey="Schlatter E" first="Eberhard" last="Schlatter">Eberhard Schlatter</name><affiliation wicri:level="1"><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Internal Medicine D, University of Muenster, Muenster</wicri:regionArea><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion><wicri:noRegion>Muenster</wicri:noRegion></affiliation></author><author><name sortKey="Houillier, Pascal" sort="Houillier, Pascal" uniqKey="Houillier P" first="Pascal" last="Houillier">Pascal Houillier</name><affiliation wicri:level="3"><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Cordeliers Research Center, Paris-Descartes University, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><affiliation wicri:level="1"><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>NHGRI, NIH, Bethesda, Md.</wicri:regionArea><wicri:noRegion>Md.</wicri:noRegion></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="4"><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Bloch Zupan, Agnes" sort="Bloch Zupan, Agnes" uniqKey="Bloch Zupan A" first="Agnès" last="Bloch-Zupan">Agnès Bloch-Zupan</name><affiliation wicri:level="3"><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Mulhouse</settlement></placeName></affiliation></author><author><name sortKey="Bleich, Markus" sort="Bleich, Markus" uniqKey="Bleich M" first="Markus" last="Bleich">Markus Bleich</name><affiliation wicri:level="3"><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Physiology, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Kitagawa, Hiroshi" sort="Kitagawa, Hiroshi" uniqKey="Kitagawa H" first="Hiroshi" last="Kitagawa">Hiroshi Kitagawa</name><affiliation wicri:level="1"><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Biochemistry, Kobe Pharmaceutical University, Kobe</wicri:regionArea><wicri:noRegion>Kobe</wicri:noRegion></affiliation></author><author><name sortKey="Unwin, Robert J" sort="Unwin, Robert J" uniqKey="Unwin R" first="Robert J." last="Unwin">Robert J. Unwin</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Mighell, Alan" sort="Mighell, Alan" uniqKey="Mighell A" first="Alan" last="Mighell">Alan Mighell</name><affiliation wicri:level="4"><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds Dental Institute, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><affiliation wicri:level="1"><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS 872, University Paris-Diderot</wicri:regionArea><wicri:noRegion>University Paris-Diderot</wicri:noRegion><wicri:noRegion>University Paris-Diderot</wicri:noRegion></affiliation></author><author><name sortKey="Kleta, Robert" sort="Kleta, Robert" uniqKey="Kleta R" first="Robert" last="Kleta">Robert Kleta</name><affiliation wicri:level="4"><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Nephrology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author></analytic><series><title level="j">Nephron. Physiology</title><idno type="ISSN">1660-8151</idno><idno type="eISSN">1660-2137</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background/Aims</title><p>Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.</p></sec><sec><title>Methods</title><p>We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.</p></sec><sec><title>Results</title><p>All patients had bi-allelic <italic>FAM20A</italic> mutations segregating with the disease; 20 different mutations were identified.</p></sec><sec><title>Conclusions</title><p>This au-tosomal recessive disorder, also known as enamel renal syndrome, of <italic>FAM20A</italic> causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic <italic>FAM20A</italic> mutations will eventually show nephrocalcinosis.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Evan, Ap" uniqKey="Evan A">AP Evan</name></author><author><name sortKey="Unwin, Rj" uniqKey="Unwin R">RJ Unwin</name></author><author><name sortKey="Williams, Jc" uniqKey="Williams J">JC Williams</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kleta, R" uniqKey="Kleta R">R Kleta</name></author><author><name sortKey="Bockenhauer, D" uniqKey="Bockenhauer D">D Bockenhauer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vivante, A" uniqKey="Vivante A">A Vivante</name></author><author><name sortKey="Lotan, D" uniqKey="Lotan D">D Lotan</name></author><author><name sortKey="Pode Shakked, N" uniqKey="Pode Shakked N">N Pode-Shakked</name></author><author><name sortKey="Landau, D" uniqKey="Landau D">D Landau</name></author><author><name sortKey="Svec, P" uniqKey="Svec P">P Svec</name></author><author><name sortKey="Nampoothiri, S" uniqKey="Nampoothiri S">S Nampoothiri</name></author><author><name sortKey="Verma, I" uniqKey="Verma I">I Verma</name></author><author><name sortKey="Abu Libdeh, A" uniqKey="Abu Libdeh A">A Abu-Libdeh</name></author><author><name sortKey="Bockenhauer, D" uniqKey="Bockenhauer D">D Bockenhauer</name></author><author><name sortKey="Dekel, B" uniqKey="Dekel B">B Dekel</name></author><author><name sortKey="Anikster, Y" uniqKey="Anikster Y">Y Anikster</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bockenhauer, D" uniqKey="Bockenhauer D">D Bockenhauer</name></author><author><name sortKey="Feather, S" uniqKey="Feather S">S Feather</name></author><author><name sortKey="Stanescu, Hc" uniqKey="Stanescu H">HC Stanescu</name></author><author><name sortKey="Bandulik, S" uniqKey="Bandulik S">S 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Bruxelles-Capitale</li><li>Schleswig-Holstein</li><li>Yorkshire-et-Humber</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Bruxelles</li><li>Chicago</li><li>Kiel</li><li>Lausanne</li><li>Leeds</li><li>Londres</li><li>Louvain-la-Neuve</li><li>Mulhouse</li><li>Nantes</li><li>Paris</li><li>São Paulo</li><li>Zurich</li></settlement><orgName><li>University College de Londres</li><li>Université catholique de Louvain</li><li>Université de Leeds</li><li>Université de Zurich</li><li>Université de l'Illinois à Chicago</li></orgName></list><tree><noCountry><name sortKey="Al Bahlani, Suhaila" sort="Al Bahlani, Suhaila" uniqKey="Al Bahlani S" first="Suhaila" last="Al-Bahlani">Suhaila Al-Bahlani</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jaureguiberry, Graciana" sort="Jaureguiberry, Graciana" uniqKey="Jaureguiberry G" first="Graciana" last="Jaureguiberry">Graciana Jaureguiberry</name></region><name sortKey="Bockenhauer, Detlef" 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Robinette</name><name sortKey="Shore, Roger" sort="Shore, Roger" uniqKey="Shore R" first="Roger" last="Shore">Roger Shore</name><name sortKey="Stanescu, Horia C" sort="Stanescu, Horia C" uniqKey="Stanescu H" first="Horia C." last="Stanescu">Horia C. Stanescu</name><name sortKey="Unwin, Robert J" sort="Unwin, Robert J" uniqKey="Unwin R" first="Robert J." last="Unwin">Robert J. Unwin</name><name sortKey="Walsh, Stephen B" sort="Walsh, Stephen B" uniqKey="Walsh S" first="Stephen B." last="Walsh">Stephen B. Walsh</name></country><country name="France"><region name="Île-de-France"><name sortKey="De La Dure Molla, Muriel" sort="De La Dure Molla, Muriel" uniqKey="De La Dure Molla M" first="Muriel" last="De La Dure-Molla">Muriel De La Dure-Molla</name></region><name sortKey="Asselin, Audrey" sort="Asselin, Audrey" uniqKey="Asselin A" first="Audrey" last="Asselin">Audrey Asselin</name><name sortKey="Bailleul Forestier, Isabelle" sort="Bailleul Forestier, Isabelle" uniqKey="Bailleul Forestier I" first="Isabelle" last="Bailleul-Forestier">Isabelle Bailleul-Forestier</name><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><name sortKey="Bloch Zupan, Agnes" sort="Bloch Zupan, Agnes" uniqKey="Bloch Zupan A" first="Agnès" last="Bloch-Zupan">Agnès Bloch-Zupan</name><name sortKey="Clauss, Francois" sort="Clauss, Francois" uniqKey="Clauss F" first="François" last="Clauss">François Clauss</name><name sortKey="Coulomb, Aurore" sort="Coulomb, Aurore" uniqKey="Coulomb A" first="Aurore" last="Coulomb">Aurore Coulomb</name><name sortKey="Figueres, Marie Lucile" sort="Figueres, Marie Lucile" uniqKey="Figueres M" first="Marie-Lucile" last="Figueres">Marie-Lucile Figueres</name><name sortKey="Ginglinger, Emmanuelle" sort="Ginglinger, Emmanuelle" uniqKey="Ginglinger E" first="Emmanuelle" last="Ginglinger">Emmanuelle Ginglinger</name><name sortKey="Guiol, Julien" sort="Guiol, Julien" uniqKey="Guiol J" first="Julien" last="Guiol">Julien Guiol</name><name sortKey="Houillier, Pascal" sort="Houillier, Pascal" uniqKey="Houillier P" first="Pascal" last="Houillier">Pascal Houillier</name><name sortKey="Huckert, Mathilde" sort="Huckert, Mathilde" uniqKey="Huckert M" first="Mathilde" last="Huckert">Mathilde Huckert</name><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><name sortKey="Laugel, Virginie" sort="Laugel, Virginie" uniqKey="Laugel V" first="Virginie" last="Laugel">Virginie Laugel</name><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name><name sortKey="Roussey, Gwenaelle" sort="Roussey, Gwenaelle" uniqKey="Roussey G" first="Gwenaelle" last="Roussey">Gwenaelle Roussey</name><name sortKey="Schmittbuhl, Matthieu" sort="Schmittbuhl, Matthieu" uniqKey="Schmittbuhl M" first="Matthieu" last="Schmittbuhl">Matthieu Schmittbuhl</name><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Quentric, Mickael" sort="Quentric, Mickael" uniqKey="Quentric M" first="Mickael" last="Quentric">Mickael Quentric</name></region><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Himmerkus, Nina" sort="Himmerkus, Nina" uniqKey="Himmerkus N" first="Nina" last="Himmerkus">Nina Himmerkus</name></region><name sortKey="Bleich, Markus" sort="Bleich, Markus" uniqKey="Bleich M" first="Markus" last="Bleich">Markus Bleich</name><name sortKey="Gruessel, Sandra" sort="Gruessel, Sandra" uniqKey="Gruessel S" first="Sandra" last="Gruessel">Sandra Gruessel</name><name sortKey="Neugebauer, Ute" sort="Neugebauer, Ute" uniqKey="Neugebauer U" first="Ute" last="Neugebauer">Ute Neugebauer</name><name sortKey="Ruehmann, Denise" sort="Ruehmann, Denise" uniqKey="Ruehmann D" first="Denise" last="Ruehmann">Denise Ruehmann</name><name sortKey="Sandmann, Carolin" sort="Sandmann, Carolin" uniqKey="Sandmann C" first="Carolin" last="Sandmann">Carolin Sandmann</name><name sortKey="Schlatter, Eberhard" sort="Schlatter, Eberhard" uniqKey="Schlatter E" first="Eberhard" last="Schlatter">Eberhard Schlatter</name></country><country name="Japon"><noRegion><name sortKey="Koike, Toshiyasu" sort="Koike, Toshiyasu" uniqKey="Koike T" first="Toshiyasu" last="Koike">Toshiyasu Koike</name></noRegion><name sortKey="Kitagawa, Hiroshi" sort="Kitagawa, Hiroshi" uniqKey="Kitagawa H" first="Hiroshi" last="Kitagawa">Hiroshi Kitagawa</name></country><country name="Australie"><noRegion><name sortKey="Mccredie, David A" sort="Mccredie, David A" uniqKey="Mccredie D" first="David A." last="Mccredie">David A. Mccredie</name></noRegion></country><country name="Suisse"><region name="Canton de Vaud"><name sortKey="Pajarola, Sandra" sort="Pajarola, Sandra" uniqKey="Pajarola S" first="Sandra" last="Pajarola">Sandra Pajarola</name></region><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><name sortKey="Sparta, Giuseppina" sort="Sparta, Giuseppina" uniqKey="Sparta G" first="Giuseppina" last="Spartà">Giuseppina Spartà</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Yamaguti, Paulo M" sort="Yamaguti, Paulo M" uniqKey="Yamaguti P" first="Paulo M." last="Yamaguti">Paulo M. Yamaguti</name></region><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name><name sortKey="Coletta, Ricardo D" sort="Coletta, Ricardo D" uniqKey="Coletta R" first="Ricardo D." last="Coletta">Ricardo D. Coletta</name><name sortKey="Dos Santos Netos, Pedro E" sort="Dos Santos Netos, Pedro E" uniqKey="Dos Santos Netos P" first="Pedro E." last="Dos Santos Netos">Pedro E. Dos Santos Netos</name><name sortKey="Martelli Junior, Hercilio" sort="Martelli Junior, Hercilio" uniqKey="Martelli Junior H" first="Hercílio" last="Martelli-Júnior">Hercílio Martelli-Júnior</name><name sortKey="Safatle, Heloisa P" sort="Safatle, Heloisa P" uniqKey="Safatle H" first="Heloisa P." last="Safatle">Heloisa P. Safatle</name></country><country name="États-Unis"><noRegion><name sortKey="Langman, Craig B" sort="Langman, Craig B" uniqKey="Langman C" first="Craig B." last="Langman">Craig B. Langman</name></noRegion><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name><name sortKey="Scheinman, Steven J" sort="Scheinman, Steven J" uniqKey="Scheinman S" first="Steven J." last="Scheinman">Steven J. Scheinman</name></country><country name="Turquie"><noRegion><name sortKey="Ozdemir Ozenen, Didem" sort="Ozdemir Ozenen, Didem" uniqKey="Ozdemir Ozenen D" first="Didem" last="Ozdemir-Ozenen">Didem Ozdemir-Ozenen</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|wiki= Wicri/Asie
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|texte= Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
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