Article
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
Human mutation - 1 Jan 1997
Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y
Abstract excerpt
Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones. Several mutations of the type X collagen gene (COL10A1) have been reported in patients with SMCD, all in the C-terminal globular domain. To address whether mutations in other...
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