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O10. Screening for mutations in the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia

โœ Scribed by Sweetman, WA; Rash, B; Sykes, B; Bighton, P; Hecht, JT; Zabel, B; Thomas, JT; Boot-Handford, RP; Grant, ME; Wallis, GA


Book ID
123145400
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
162 KB
Volume
15
Category
Article
ISSN
8756-3282

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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