A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Identifieur interne : 008634 ( Main/Exploration ); précédent : 008633; suivant : 008635A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Auteurs : Céline Huber [France] ; Anee-Lise Delezoide [France] ; Fabien Guimiot [France] ; Clarisse Baumann [France] ; Valérie Malan [France] ; Martine Le Merrer [France] ; Daniela Bezerra Da Silva [Canada] ; Dominique Bonneau [France] ; Pierre Chatelain [France] ; Carol Chu [Royaume-Uni] ; Robin Clark [États-Unis] ; Helen Cox [Royaume-Uni] ; Patrick Edery [France] ; Thomas Edouard [France] ; Virginia Fano [Argentine] ; Kate Gibson [Australie] ; Gabriele Gillessen-Kaesbach [Allemagne] ; Maria-Luisa Giovannucci-Uzielli [Italie] ; Luitgard Margarete Graul-Neumann [Allemagne] ; Johana-Maria Van Hagen [Pays-Bas] ; Liselot Van Hest [Pays-Bas] ; Dafne Horovitz [Brésil] ; Judith Melki [Israël] ; Carl-Joachim Partsch [Allemagne] ; Henry Plauchu [France] ; Anna Rajab ; Massimiliano Rossi [Italie] ; David Sillence [Australie] ; Elisabeth Steichen-Gersdorf [Autriche] ; Helen Stewart [Royaume-Uni] ; Sheila Unger [Allemagne] ; Martin Zenker [Allemagne] ; Arnold Munnich [France] ; Valérie Cormier-Daire [France]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2008.
Abstract
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the
Url:
DOI: 10.1038/ejhg.2008.200
PubMed: 19225462
PubMed Central: 2986175
Affiliations:
- Allemagne, Argentine, Australie, Autriche, Brésil, Canada, France, Israël, Italie, Pays-Bas, Royaume-Uni, États-Unis
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Aires,<country>Argentina</country></nlm:aff><country xml:lang="fr">Argentine</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Genetic Health Queensland, Royal Children's Hospital</institution>, Brisbane,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Institut für Humangenetik Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</institution>, Firenze,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Graul Neumann, Luitgard Margarete" sort="Graul Neumann, Luitgard Margarete" uniqKey="Graul Neumann L" first="Luitgard Margarete" last="Graul-Neumann">Luitgard Margarete Graul-Neumann</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name><affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Centro de Genética Médica, Instituto Fernandes Figueira</institution>, Rio de Janeiro,<country>Brazil</country></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Human Genetics, Hadassah University Hospital</institution>, Jerusalem,<country>Israel</country></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name><affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</institution>, Esslingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name><affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Service de Génétique, Hôpital de l'Hôtel-Dieu</institution>, Lyon,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rajab, Anna" sort="Rajab, Anna" 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School</institution>, Westmead,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name><affiliation wicri:level="1"><nlm:aff id="aff25"><institution>Universitätsklinik für Kinder-und Jugendheilkunde</institution>, Innsbruck,<country>Austria</country></nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name><affiliation wicri:level="1"><nlm:aff id="aff26"><institution>Department of Clinical genetics, Churchill Hospital</institution>, Oxford,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation wicri:level="1"><nlm:aff id="aff27"><institution>Institute of Human Genetics</institution>, Freiburg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="1"><nlm:aff id="aff28"><institution>Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg</institution>,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># 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last="Delezoide">Anee-Lise Delezoide</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Guimiot, Fabien" sort="Guimiot, Fabien" uniqKey="Guimiot F" first="Fabien" last="Guimiot">Fabien Guimiot</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Genetics, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Da Silva, Daniela Bezerra" sort="Da Silva, Daniela Bezerra" uniqKey="Da Silva D" first="Daniela Bezerra" last="Da Silva">Daniela Bezerra Da Silva</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Service de génétique, CHU Sainte Justine</institution>, Montreal,<country>Canada</country></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Biochemistry and Medical Genetics and INSERM, U694</institution>, Angers,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chatelain, Pierre" sort="Chatelain, Pierre" uniqKey="Chatelain P" first="Pierre" last="Chatelain">Pierre Chatelain</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Service d'endocrinologie, Hopital Debrousse 2</institution>, Lyon,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust</institution>, Leeds,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Clark, Robin" sort="Clark, Robin" uniqKey="Clark R" first="Robin" last="Clark">Robin Clark</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine</institution>, Loma Linda,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cox, Helen" sort="Cox, Helen" uniqKey="Cox H" first="Helen" last="Cox">Helen Cox</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</institution>, Lyon,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Service d'Endocrinologie Pédiatrique, Hopital Purpan</institution>, Toulouse,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Fano, Virginia" sort="Fano, Virginia" uniqKey="Fano V" first="Virginia" last="Fano">Virginia Fano</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Hospital JP Garrahan, Combate de los Pozos 1881</institution>, Buenos Aires,<country>Argentina</country></nlm:aff><country xml:lang="fr">Argentine</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Genetic Health Queensland, Royal Children's Hospital</institution>, Brisbane,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Institut für Humangenetik Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</institution>, Firenze,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Graul Neumann, Luitgard Margarete" sort="Graul Neumann, Luitgard Margarete" uniqKey="Graul Neumann L" first="Luitgard Margarete" last="Graul-Neumann">Luitgard Margarete Graul-Neumann</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name><affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Centro de Genética Médica, Instituto Fernandes Figueira</institution>, Rio de Janeiro,<country>Brazil</country></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Human Genetics, Hadassah University Hospital</institution>, Jerusalem,<country>Israel</country></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name><affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</institution>, Esslingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name><affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Service de Génétique, Hôpital de l'Hôtel-Dieu</institution>, Lyon,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name><affiliation><nlm:aff id="aff22"><institution>Royal Hospital, Goverment of Muscat 113</institution>, Oman,<country>UAE</country></nlm:aff><wicri:noCountry code="nlm country">UAE</wicri:noCountry></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Department of Pediatrics, Federico II University</institution>, Naples,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</institution>, Westmead,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name><affiliation wicri:level="1"><nlm:aff id="aff25"><institution>Universitätsklinik für Kinder-und Jugendheilkunde</institution>, Innsbruck,<country>Austria</country></nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name><affiliation wicri:level="1"><nlm:aff id="aff26"><institution>Department of Clinical genetics, Churchill Hospital</institution>, Oxford,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation wicri:level="1"><nlm:aff id="aff27"><institution>Institute of Human Genetics</institution>, Freiburg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="1"><nlm:aff id="aff28"><institution>Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg</institution>,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the <italic>CUL7</italic> gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious <italic>CUL7</italic> mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a <italic>CUL7</italic> mutation. Lack of mutations in 10/33 cases and exclusion of the <italic>CUL7</italic> locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Argentine</li><li>Australie</li><li>Autriche</li><li>Brésil</li><li>Canada</li><li>France</li><li>Israël</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name></noCountry><country name="France"><noRegion><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</name></noRegion><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><name sortKey="Chatelain, Pierre" sort="Chatelain, Pierre" uniqKey="Chatelain P" first="Pierre" last="Chatelain">Pierre Chatelain</name><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><name sortKey="Delezoide, Anee Lise" sort="Delezoide, Anee Lise" uniqKey="Delezoide A" first="Anee-Lise" last="Delezoide">Anee-Lise Delezoide</name><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name><name sortKey="Guimiot, Fabien" sort="Guimiot, Fabien" uniqKey="Guimiot F" first="Fabien" last="Guimiot">Fabien Guimiot</name><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name></country><country name="Canada"><noRegion><name sortKey="Da Silva, Daniela Bezerra" sort="Da Silva, Daniela Bezerra" uniqKey="Da Silva D" first="Daniela Bezerra" last="Da Silva">Daniela Bezerra Da Silva</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name></noRegion><name sortKey="Cox, Helen" sort="Cox, Helen" uniqKey="Cox H" first="Helen" last="Cox">Helen Cox</name><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name></country><country name="États-Unis"><noRegion><name sortKey="Clark, Robin" sort="Clark, Robin" uniqKey="Clark R" first="Robin" last="Clark">Robin Clark</name></noRegion></country><country name="Argentine"><noRegion><name sortKey="Fano, Virginia" sort="Fano, Virginia" uniqKey="Fano V" first="Virginia" last="Fano">Virginia Fano</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name></noRegion><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name></country><country name="Allemagne"><noRegion><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name></noRegion><name sortKey="Graul Neumann, Luitgard Margarete" sort="Graul Neumann, Luitgard Margarete" uniqKey="Graul Neumann L" first="Luitgard Margarete" last="Graul-Neumann">Luitgard Margarete Graul-Neumann</name><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name></country><country name="Italie"><noRegion><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name></noRegion><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name></country><country name="Pays-Bas"><noRegion><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name></noRegion><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name></country><country name="Brésil"><noRegion><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name></noRegion></country><country name="Israël"><noRegion><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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