Article
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).
Clinical rheumatology - 1 Jul 2006
Takahashi Mitsuhiko, Matsui Yoshito, Goto Tomohiro, Nishimura Gen, Ikegawa Shiro, Ohashi Hirofumi, Yasui Natsuo
Abstract excerpt
We describe a Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) showing significant phenotypic diversity among the five affected members. Genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3. The proband was a 9-year-old boy, who presented with ulnar club hands due to severe epiphyseal dysplasia in the...
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