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A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

✍ Scribed by Malwina Czarny-Ratajczak; Jaana Lohiniva; Piotr Rogala; Kazimierz Kozlowski; Merja Perälä; Liisa Carter; Tim D. Spector; Lukasz Kolodziej; Ulpu Seppänen; Renata Glazar; Jan Królewski; Anna Latos-Bielenska; Leena Ala-Kokko


Book ID
117853726
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
755 KB
Volume
69
Category
Article
ISSN
0002-9297

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Novel COL9A3 mutation in a family with m
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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