Article
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
European journal of human genetics : EJHG - 1 Mar 2005
Jakkula Eveliina, Mäkitie Outi, Czarny-Ratajczak Malwina, Czarny-Ratacjzak Malwina, Jackson Gail C, Damignani Rita, Susic Miki, Briggs Michael D, Cole William G, Ala-Kokko Leena
Abstract excerpt
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia. Mutations in six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3 and DTDST) have been reported, but the genotype-phenotype correlations and the proportions of cases due to mutations in these genes are s...
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