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Epiphyseal dysplasia, multiple, 2

*Gene map locus 1p33-p32.2
[Clinical features: mild short stature; flattened, irregular epiphyses; varus/valgus knee deformity; knee osteoarthritis; mildly short hands]
[Inheritance: autosomal dominant]

Identification of Novel pro-2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia
American Journal of Human Genetics

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Edited by Aldo Campana, July 4, 2014