ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Weill-Marchesani syndrome (WMS) is characterized by the association of short stature; brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of the lenses; and, occasionally, heart defects. We have recently mapped a gene for the autosomal recessive form of WMS to chro...

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Autors principals: Dagoneau, Nathalie, Benoist-Lasselin, Catherine, Huber, Céline, Faivre, Laurence, Mégarbané, André, Alswaid, Abdulrahman, Dollfus, Hélène, Alembik, Yves, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2004
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182109/
https://ncbi.nlm.nih.gov/pubmed/15368195
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