Article
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
American journal of medical genetics. Part A - 15 Aug 2004
Mabuchi Akihiko, Momohara Shigeki, Ohashi Hirofumi, Takatori Yoshio, Haga Nobuhiko, Nishimura Gen, Ikegawa Shiro
Abstract excerpt
Mutations in the gene encoding cartilage oligomeric matrix protein (COMP) cause two common skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). At present, diagnosis of these diseases is based primarily on clinical and radiographic findings and is sometimes erroneous, particularly in adult patients. However, genetic diagnosis is difficult, because COMP mutations are scattered...
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