Mutations of COL10A1 in Schmid metaphyse
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John F. Bateman; Richard Wilson; Susanna Freddi; Shireen R. LamandΓ©; Ravi Savari
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Article
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2005
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John Wiley and Sons
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English
β 318 KB
Schmid metaphyseal chondrodysplasia (SMCD) is a dominantly inherited cartilage disorder caused by mutations in the gene for the hypertrophic cartilage extracellular matrix structural protein, collagen X (COL10A1). Thirty heterozygous mutations have been described, about equally divided into two muta