Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
Identifieur interne : 003789 ( Main/Exploration ); précédent : 003788; suivant : 003790Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
Auteurs : Camille Humbert [France] ; Flora Silbermann [France] ; Bharti Morar [Australie] ; Mélanie Parisot [France] ; Mohammed Zarhrate [France] ; Cécile Masson [France] ; Frédéric Tores [France] ; Patricia Blanchet [France] ; Marie-José Perez [France] ; Yuliya Petrov [France] ; Philippe Khau Van Kien [France] ; Joelle Roume [France] ; Brigitte Leroy [France] ; Olivier Gribouval [France] ; Luba Kalaydjieva [Australie] ; Laurence Heidet [France] ; Rémi Salomon [France] ; Corinne Antignac [France] ; Alexandre Benmerah [France] ; Sophie Saunier [France] ; Cécile Jeanpierre [France]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2014.
Descripteurs français
- KwdFr :
- Femelle, Foetus (malformations), Gènes récessifs, Homozygote, Humains, Intégrines alpha (génétique), Intégrines alpha (métabolisme), Maladies du rein (), Maladies du rein (anatomopathologie), Maladies du rein (génétique), Malformations (anatomopathologie), Malformations (génétique), Malformations urogénitales (anatomopathologie), Malformations urogénitales (génétique), Mutation, Mâle, Pedigree, Rein (anatomopathologie), Rein (malformations).
- MESH :
- anatomopathologie : Maladies du rein, Malformations, Malformations urogénitales, Rein.
- génétique : Intégrines alpha, Maladies du rein, Malformations, Malformations urogénitales.
- malformations : Foetus, Rein.
- métabolisme : Intégrines alpha.
- Femelle, Gènes récessifs, Homozygote, Humains, Maladies du rein, Mutation, Mâle, Pedigree.
English descriptors
- KwdEn :
- Congenital Abnormalities (genetics), Congenital Abnormalities (pathology), Female, Fetus (abnormalities), Genes, Recessive, Homozygote, Humans, Integrin alpha Chains (genetics), Integrin alpha Chains (metabolism), Kidney (abnormalities), Kidney (pathology), Kidney Diseases (congenital), Kidney Diseases (genetics), Kidney Diseases (pathology), Male, Mutation, Pedigree, Urogenital Abnormalities (genetics), Urogenital Abnormalities (pathology).
- MESH :
- chemical , genetics : Integrin alpha Chains.
- abnormalities : Fetus, Kidney.
- congenital : Kidney Diseases.
- genetics : Congenital Abnormalities, Kidney Diseases, Urogenital Abnormalities.
- chemical , metabolism : Integrin alpha Chains.
- pathology : Congenital Abnormalities, Kidney, Kidney Diseases, Urogenital Abnormalities.
- Female, Genes, Recessive, Homozygote, Humans, Male, Mutation, Pedigree.
Abstract
Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for
Url:
DOI: 10.1016/j.ajhg.2013.12.017
PubMed: 24439109
PubMed Central: 3928807
Affiliations:
- Australie, France
- Languedoc-Roussillon, Occitanie (région administrative), Île-de-France
- Montpellier, Paris
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Le document en format XML
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St Germain-en-Laye, 78300 Poissy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Médicale, Service de Cytogénétique et de Biologie de la Reproduction, CHI Poissy - St Germain-en-Laye, 78300 Poissy</wicri:regionArea><wicri:noRegion>78300 Poissy</wicri:noRegion><wicri:noRegion>78300 Poissy</wicri:noRegion></affiliation></author><author><name sortKey="Leroy, Brigitte" sort="Leroy, Brigitte" uniqKey="Leroy B" first="Brigitte" last="Leroy">Brigitte Leroy</name><affiliation wicri:level="1"><nlm:aff id="aff9">Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy</wicri:regionArea><wicri:noRegion>78300 Poissy</wicri:noRegion><wicri:noRegion>78300 Poissy</wicri:noRegion></affiliation></author><author><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation wicri:level="1"><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009</wicri:regionArea><wicri:noRegion>WA 6009</wicri:noRegion></affiliation></author><author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><affiliation wicri:level="1"><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff11">Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24439109</idno><idno type="pmc">3928807</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807</idno><idno type="RBID">PMC:3928807</idno><idno type="doi">10.1016/j.ajhg.2013.12.017</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001207</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001207</idno><idno type="wicri:Area/Pmc/Curation">001068</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001068</idno><idno type="wicri:Area/Pmc/Checkpoint">001507</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001507</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">003937</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003937</idno><idno type="wicri:Area/PubMed/Curation">003822</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003822</idno><idno type="wicri:Area/PubMed/Checkpoint">003822</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003822</idno><idno type="wicri:Area/Ncbi/Merge">001727</idno><idno type="wicri:Area/Ncbi/Curation">001727</idno><idno type="wicri:Area/Ncbi/Checkpoint">001727</idno><idno type="wicri:doubleKey">0002-9297:2014:Humbert C:integrin:alpha:recessive</idno><idno type="wicri:Area/Main/Merge">003820</idno><idno type="wicri:Area/Main/Curation">003789</idno><idno type="wicri:Area/Main/Exploration">003789</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans</title><author><name sortKey="Humbert, Camille" sort="Humbert, Camille" uniqKey="Humbert C" first="Camille" last="Humbert">Camille Humbert</name><affiliation wicri:level="3"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Silbermann, Flora" sort="Silbermann, Flora" uniqKey="Silbermann F" first="Flora" last="Silbermann">Flora Silbermann</name><affiliation wicri:level="3"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Morar, Bharti" sort="Morar, Bharti" uniqKey="Morar B" first="Bharti" last="Morar">Bharti Morar</name><affiliation wicri:level="1"><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009</wicri:regionArea><wicri:noRegion>WA 6009</wicri:noRegion></affiliation></author><author><name sortKey="Parisot, Melanie" sort="Parisot, Melanie" uniqKey="Parisot M" first="Mélanie" last="Parisot">Mélanie Parisot</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Zarhrate, Mohammed" sort="Zarhrate, Mohammed" uniqKey="Zarhrate M" first="Mohammed" last="Zarhrate">Mohammed Zarhrate</name><affiliation wicri:level="1"><nlm:aff id="aff4">Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name><affiliation wicri:level="1"><nlm:aff id="aff5">Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Tores, Frederic" sort="Tores, Frederic" uniqKey="Tores F" first="Frédéric" last="Tores">Frédéric Tores</name><affiliation wicri:level="1"><nlm:aff id="aff5">Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation wicri:level="1"><nlm:aff id="aff6">Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier</wicri:regionArea><wicri:noRegion>34090 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name><affiliation wicri:level="1"><nlm:aff id="aff6">Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier</wicri:regionArea><wicri:noRegion>34090 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Petrov, Yuliya" sort="Petrov, Yuliya" uniqKey="Petrov Y" first="Yuliya" last="Petrov">Yuliya Petrov</name><affiliation wicri:level="1"><nlm:aff id="aff7">Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes</wicri:regionArea><wicri:noRegion>30029 Nîmes</wicri:noRegion><wicri:noRegion>30029 Nîmes</wicri:noRegion></affiliation></author><author><name sortKey="Khau Van Kien, Philippe" sort="Khau Van Kien, Philippe" uniqKey="Khau Van Kien P" first="Philippe" last="Khau Van Kien">Philippe Khau Van Kien</name><affiliation wicri:level="1"><nlm:aff id="aff7">Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes</wicri:regionArea><wicri:noRegion>30029 Nîmes</wicri:noRegion><wicri:noRegion>30029 Nîmes</wicri:noRegion></affiliation></author><author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><affiliation wicri:level="1"><nlm:aff id="aff8">Unité de Génétique Médicale, Service de Cytogénétique et de Biologie de la Reproduction, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Médicale, Service de Cytogénétique et de Biologie de la Reproduction, CHI Poissy - St Germain-en-Laye, 78300 Poissy</wicri:regionArea><wicri:noRegion>78300 Poissy</wicri:noRegion><wicri:noRegion>78300 Poissy</wicri:noRegion></affiliation></author><author><name sortKey="Leroy, Brigitte" sort="Leroy, Brigitte" uniqKey="Leroy B" first="Brigitte" last="Leroy">Brigitte Leroy</name><affiliation wicri:level="1"><nlm:aff id="aff9">Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy</wicri:regionArea><wicri:noRegion>78300 Poissy</wicri:noRegion><wicri:noRegion>78300 Poissy</wicri:noRegion></affiliation></author><author><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation wicri:level="1"><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009</wicri:regionArea><wicri:noRegion>WA 6009</wicri:noRegion></affiliation></author><author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><affiliation wicri:level="1"><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff11">Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Congenital Abnormalities (genetics)</term><term>Congenital Abnormalities (pathology)</term><term>Female</term><term>Fetus (abnormalities)</term><term>Genes, Recessive</term><term>Homozygote</term><term>Humans</term><term>Integrin alpha Chains (genetics)</term><term>Integrin alpha Chains (metabolism)</term><term>Kidney (abnormalities)</term><term>Kidney (pathology)</term><term>Kidney Diseases (congenital)</term><term>Kidney Diseases (genetics)</term><term>Kidney Diseases (pathology)</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Urogenital Abnormalities (genetics)</term><term>Urogenital Abnormalities (pathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Femelle</term><term>Foetus (malformations)</term><term>Gènes récessifs</term><term>Homozygote</term><term>Humains</term><term>Intégrines alpha (génétique)</term><term>Intégrines alpha (métabolisme)</term><term>Maladies du rein ()</term><term>Maladies du rein (anatomopathologie)</term><term>Maladies du rein (génétique)</term><term>Malformations (anatomopathologie)</term><term>Malformations (génétique)</term><term>Malformations urogénitales (anatomopathologie)</term><term>Malformations urogénitales (génétique)</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Rein (anatomopathologie)</term><term>Rein (malformations)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Integrin alpha Chains</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Fetus</term><term>Kidney</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Maladies du rein</term><term>Malformations</term><term>Malformations urogénitales</term><term>Rein</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Kidney Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Congenital Abnormalities</term><term>Kidney Diseases</term><term>Urogenital Abnormalities</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Intégrines alpha</term><term>Maladies du rein</term><term>Malformations</term><term>Malformations urogénitales</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Foetus</term><term>Rein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Integrin alpha Chains</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Intégrines alpha</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Congenital Abnormalities</term><term>Kidney</term><term>Kidney Diseases</term><term>Urogenital Abnormalities</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Genes, Recessive</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Femelle</term><term>Gènes récessifs</term><term>Homozygote</term><term>Humains</term><term>Maladies du rein</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for <italic>RET</italic> mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene <italic>ITGA8</italic> in two families. <italic>Itga8</italic> homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human <italic>ITGA8</italic> mutations. These results demonstrate that mutations of <italic>ITGA8</italic> are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.</p></div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Languedoc-Roussillon</li><li>Occitanie (région administrative)</li><li>Île-de-France</li></region><settlement><li>Montpellier</li><li>Paris</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Humbert, Camille" sort="Humbert, Camille" uniqKey="Humbert C" first="Camille" last="Humbert">Camille Humbert</name></region><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><name sortKey="Humbert, Camille" sort="Humbert, Camille" uniqKey="Humbert C" first="Camille" last="Humbert">Camille Humbert</name><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name><name sortKey="Khau Van Kien, Philippe" sort="Khau Van Kien, Philippe" uniqKey="Khau Van Kien P" first="Philippe" last="Khau Van Kien">Philippe Khau Van Kien</name><name sortKey="Leroy, Brigitte" sort="Leroy, Brigitte" uniqKey="Leroy B" first="Brigitte" last="Leroy">Brigitte Leroy</name><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name><name sortKey="Parisot, Melanie" sort="Parisot, Melanie" uniqKey="Parisot M" first="Mélanie" last="Parisot">Mélanie Parisot</name><name sortKey="Parisot, Melanie" sort="Parisot, Melanie" uniqKey="Parisot M" first="Mélanie" last="Parisot">Mélanie Parisot</name><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name><name sortKey="Petrov, Yuliya" sort="Petrov, Yuliya" uniqKey="Petrov Y" first="Yuliya" last="Petrov">Yuliya Petrov</name><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><name sortKey="Silbermann, Flora" sort="Silbermann, Flora" uniqKey="Silbermann F" first="Flora" last="Silbermann">Flora Silbermann</name><name sortKey="Silbermann, Flora" sort="Silbermann, Flora" uniqKey="Silbermann F" first="Flora" last="Silbermann">Flora Silbermann</name><name sortKey="Tores, Frederic" sort="Tores, Frederic" uniqKey="Tores F" first="Frédéric" last="Tores">Frédéric Tores</name><name sortKey="Zarhrate, Mohammed" sort="Zarhrate, Mohammed" uniqKey="Zarhrate M" first="Mohammed" last="Zarhrate">Mohammed Zarhrate</name></country><country name="Australie"><noRegion><name sortKey="Morar, Bharti" sort="Morar, Bharti" uniqKey="Morar B" first="Bharti" last="Morar">Bharti Morar</name></noRegion><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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