1p33-p32.2   GeneReviews   Google   OMIM   PubMed   [Epiphyseal dysplasia, multiple]

Epiphyseal dysplasia, multiple, 2

*Gene map locus 1p33-p32.2
EDM2
[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, April 24, 2014