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Autor:
Renata Glazar, Ulpu Seppänen, Tim D. Spector, Liisa Carter, Malwina Czarny-Ratajczak, Anna Latos-Bielenska, Jaana Lohiniva, Jan Królewski, Leena Ala-Kokko, Kazimierz Kozlowski, Piotr Rogala, Merja Perälä, Lukasz Kolodziej
Publikováno v:
The American Journal of Human Genetics. 69:969-980
Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is clinically highly heterogeneous, partially because of its complex genetic background. Mutations in four genes, COL9A2, COL9A3, COMP, and MATR3, all codin