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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

✍ Scribed by Nathalie Dagoneau; Marie Goulet; David Geneviève; Yves Sznajer; Jelena Martinovic; Sarah Smithson; Céline Huber; Geneviève Baujat; Elisabeth Flori; Laura Tecco; Denise Cavalcanti; Anne-Lise Delezoide; Valérie Serre; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire


Book ID
113422644
Publisher
American Society of Human Genetics
Year
2009
Tongue
English
Weight
925 KB
Volume
84
Category
Article
ISSN
0002-9297

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Jeune asphyxiating thoracic dystrophy an
✍ Ho, Nicola C.; Francomano, Clair A.; van Allen, Margot 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anom