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Identification of a mutation in the type X collagen gene (COL10A1) in a family with Schmid metaphyseal chondrodysplasia

✍ Scribed by Dharmavaram, Rita M.; Elberson, Margaret A.; Peng, Minzhong; Kirson, Lisa A.; Kelly, Thaddeus E.; Jimenez, Sergio A.

Book ID
122701787
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
97 KB
Volume
14
Category
Article
ISSN
0945-053X

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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