Article
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.
American journal of medical genetics. Part A - 1 Aug 2003
Mostert A K, Dijkstra P F, Jansen B R H, van Horn J R, de Graaf B, Heutink P, Lindhout D
Abstract excerpt
In this study, we followed-up the family with bilateral hereditary micro-epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41-B:514-523]. Clinical re-examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2,...
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