Article
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
Pediatric radiology - 1 Jan 2001
Unger S L, Briggs M D, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin D L, Lachman R S, Cohn D H
Abstract excerpt
Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3...
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