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A Novel RAB33B Mutation in Smith-McCort Dysplasia

✍ Scribed by Dupuis, Nina; Lebon, Sophie; Kumar, Manoj; Drunat, Séverine; Graul-Neumann, Luitgard M.; Gressens, Pierre; El Ghouzzi, Vincent

Book ID: 118759325
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 234 KB
Volume: 34
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22235

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## Abstract Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset of osteoarthritis (OA) mainly in the hip and knee joints, and abnormally small and/or irregular epiphyses. MED is clinically and genetically heterogeneous. Six