Article
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Genetic testing - 1 Dec 2008
Kojima Hirofumi, Wada Takahito, Seki Hiroshi, Kubota Takeo, Wakui Keiko, Fukushima Yoshimitsu
Abstract excerpt
Multiple osteochondromas (MO; also referred to as hereditary multiple exostoses [HME] in the literature) is an autosomal dominant disorder characterized by benign, cartilage-capped bone tumors that grow from the metaphyses of long bones. Two genes are associated with this disease: EXT1 on 8q24.11...
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