Mutations in the N-terminal globular dom
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Shiro Ikegawa; Kozo Nakamura; Akira Nagano; Nobuhiko Haga; Yusuke Nakamura
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Article
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1997
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John Wiley and Sons
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English
โ 206 KB
๐ 2 views
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