A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Identifieur interne : 002A56 ( Pmc/Checkpoint ); précédent : 002A55; suivant : 002A57A 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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PMC:2986175Le document en format XML
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<author><name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name>
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<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
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<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>
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<author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Chatelain, Pierre" sort="Chatelain, Pierre" uniqKey="Chatelain P" first="Pierre" last="Chatelain">Pierre Chatelain</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Clark, Robin" sort="Clark, Robin" uniqKey="Clark R" first="Robin" last="Clark">Robin Clark</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Cox, Helen" sort="Cox, Helen" uniqKey="Cox H" first="Helen" last="Cox">Helen Cox</name>
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, Birmingham,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
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, Lyon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name>
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, Toulouse,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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</nlm:aff>
<country xml:lang="fr">Argentine</country>
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<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>
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</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<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>
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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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<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>
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<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>
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<author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name>
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</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>
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, 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>
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, 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>
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<author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name>
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, 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>
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</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name>
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, Oxford,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
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,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
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</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>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A large-scale mutation search reveals genetic heterogeneity in 3M syndrome</title>
<author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</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>
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</nlm:aff>
<country xml:lang="fr">France</country>
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<author><name sortKey="Delezoide, Anee Lise" sort="Delezoide, Anee Lise" uniqKey="Delezoide A" first="Anee-Lise" 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>
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<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>
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<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>
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, 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>
<pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">19225462</article-id>
<article-id pub-id-type="pmc">2986175</article-id>
<article-id pub-id-type="pii">ejhg2008200</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2008.200</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Short Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome</article-title>
<alt-title alt-title-type="running">A large-scale mutation search in 3M syndrome</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Huber</surname>
<given-names>Céline</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Delezoide</surname>
<given-names>Anee-Lise</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Guimiot</surname>
<given-names>Fabien</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Baumann</surname>
<given-names>Clarisse</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Malan</surname>
<given-names>Valérie</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Le Merrer</surname>
<given-names>Martine</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Da Silva</surname>
<given-names>Daniela Bezerra</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bonneau</surname>
<given-names>Dominique</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chatelain</surname>
<given-names>Pierre</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chu</surname>
<given-names>Carol</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Clark</surname>
<given-names>Robin</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cox</surname>
<given-names>Helen</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Edery</surname>
<given-names>Patrick</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Edouard</surname>
<given-names>Thomas</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fano</surname>
<given-names>Virginia</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gibson</surname>
<given-names>Kate</given-names>
</name>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gillessen-Kaesbach</surname>
<given-names>Gabriele</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Giovannucci-Uzielli</surname>
<given-names>Maria-Luisa</given-names>
</name>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Graul-Neumann</surname>
<given-names>Luitgard Margarete</given-names>
</name>
<xref ref-type="aff" rid="aff16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Hagen</surname>
<given-names>Johana-Maria</given-names>
</name>
<xref ref-type="aff" rid="aff17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Hest</surname>
<given-names>Liselot</given-names>
</name>
<xref ref-type="aff" rid="aff17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Horovitz</surname>
<given-names>Dafne</given-names>
</name>
<xref ref-type="aff" rid="aff18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Melki</surname>
<given-names>Judith</given-names>
</name>
<xref ref-type="aff" rid="aff19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Partsch</surname>
<given-names>Carl-Joachim</given-names>
</name>
<xref ref-type="aff" rid="aff20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Plauchu</surname>
<given-names>Henry</given-names>
</name>
<xref ref-type="aff" rid="aff21">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rajab</surname>
<given-names>Anna</given-names>
</name>
<xref ref-type="aff" rid="aff22">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rossi</surname>
<given-names>Massimiliano</given-names>
</name>
<xref ref-type="aff" rid="aff23">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sillence</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="aff24">24</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Steichen-Gersdorf</surname>
<given-names>Elisabeth</given-names>
</name>
<xref ref-type="aff" rid="aff25">25</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stewart</surname>
<given-names>Helen</given-names>
</name>
<xref ref-type="aff" rid="aff26">26</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Unger</surname>
<given-names>Sheila</given-names>
</name>
<xref ref-type="aff" rid="aff27">27</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zenker</surname>
<given-names>Martin</given-names>
</name>
<xref ref-type="aff" rid="aff28">28</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Munnich</surname>
<given-names>Arnold</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cormier-Daire</surname>
<given-names>Valérie</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>
, Paris,<country>France</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>
, Paris,<country>France</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Department of Genetics, AP-HP, Hôpital Robert Debré</institution>
, Paris,<country>France</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Service de génétique, CHU Sainte Justine</institution>
, Montreal,<country>Canada</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Department of Biochemistry and Medical Genetics and INSERM, U694</institution>
, Angers,<country>France</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Service d'endocrinologie, Hopital Debrousse 2</institution>
, Lyon,<country>France</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust</institution>
, Leeds,<country>UK</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine</institution>
, Loma Linda,<country>USA</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>
, Birmingham,<country>UK</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</institution>
, Lyon,<country>France</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>Service d'Endocrinologie Pédiatrique, Hopital Purpan</institution>
, Toulouse,<country>France</country>
</aff>
<aff id="aff12"><label>12</label>
<institution>Hospital JP Garrahan, Combate de los Pozos 1881</institution>
, Buenos Aires,<country>Argentina</country>
</aff>
<aff id="aff13"><label>13</label>
<institution>Genetic Health Queensland, Royal Children's Hospital</institution>
, Brisbane,<country>Australia</country>
</aff>
<aff id="aff14"><label>14</label>
<institution>Institut für Humangenetik Universität zu Lübeck</institution>
, Lübeck,<country>Germany</country>
</aff>
<aff id="aff15"><label>15</label>
<institution>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</institution>
, Firenze,<country>Italy</country>
</aff>
<aff id="aff16"><label>16</label>
<institution>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</institution>
, Berlin,<country>Germany</country>
</aff>
<aff id="aff17"><label>17</label>
<institution>Department of Clinical Genetics, VU university medical centre</institution>
, Amsterdam,<country>The Netherlands</country>
</aff>
<aff id="aff18"><label>18</label>
<institution>Centro de Genética Médica, Instituto Fernandes Figueira</institution>
, Rio de Janeiro,<country>Brazil</country>
</aff>
<aff id="aff19"><label>19</label>
<institution>Department of Human Genetics, Hadassah University Hospital</institution>
, Jerusalem,<country>Israel</country>
</aff>
<aff id="aff20"><label>20</label>
<institution>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</institution>
, Esslingen,<country>Germany</country>
</aff>
<aff id="aff21"><label>21</label>
<institution>Service de Génétique, Hôpital de l'Hôtel-Dieu</institution>
, Lyon,<country>France</country>
</aff>
<aff id="aff22"><label>22</label>
<institution>Royal Hospital, Goverment of Muscat 113</institution>
, Oman,<country>UAE</country>
</aff>
<aff id="aff23"><label>23</label>
<institution>Department of Pediatrics, Federico II University</institution>
, Naples,<country>Italy</country>
</aff>
<aff id="aff24"><label>24</label>
<institution>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</institution>
, Westmead,<country>Australia</country>
</aff>
<aff id="aff25"><label>25</label>
<institution>Universitätsklinik für Kinder-und Jugendheilkunde</institution>
, Innsbruck,<country>Austria</country>
</aff>
<aff id="aff26"><label>26</label>
<institution>Department of Clinical genetics, Churchill Hospital</institution>
, Oxford,<country>UK</country>
</aff>
<aff id="aff27"><label>27</label>
<institution>Institute of Human Genetics</institution>
, Freiburg,<country>Germany</country>
</aff>
<aff id="aff28"><label>28</label>
<institution>Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg</institution>
,<country>Germany</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>
, 149 rue de Sèvres 75015, Paris, <country>France</country>
. Tel: +33 144 495 163; Fax: 33 144 495 150; E-mail: <email>valerie.cormier-daire@inserm.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>03</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="epub"><day>29</day>
<month>10</month>
<year>2008</year>
</pub-date>
<volume>17</volume>
<issue>3</issue>
<fpage>395</fpage>
<lpage>400</lpage>
<history><date date-type="received"><day>20</day>
<month>05</month>
<year>2008</year>
</date>
<date date-type="rev-recd"><day>01</day>
<month>08</month>
<year>2008</year>
</date>
<date date-type="accepted"><day>23</day>
<month>09</month>
<year>2008</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2009 Nature Publishing Group</copyright-statement>
<copyright-year>2009</copyright-year>
<copyright-holder>Nature Publishing Group</copyright-holder>
</permissions>
<abstract><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>
</abstract>
<kwd-group><kwd><italic>CUL7</italic>
</kwd>
<kwd>paternal isodisomy of chromosome 6</kwd>
<kwd>genetic heterogeneity of 3M syndrome</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
<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>
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