Article
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.
Genetics and molecular research : GMR - 8 Sept 2010
Elliott A M, Bocangel P, Reed M H, Greenberg C R
Abstract excerpt
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia, generally identified clinically at two years of age due to decreased linear growth and a waddling gait. Radiographic features include small and irregular epiphyses, with metaphyseal changes of the long bones and characteristic vertebral changes. Mutations in the COMP gene cause PSACH and some cases of multiple epiphyseal dysplasia....
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