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
✦ LIBER ✦
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients
✍ Scribed by Outi Mäkitie; Miki Susic; Leanne Ward; Catherine Barclay; Francis H. Glorieux; William G. Cole
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 261 KB
- Volume
- 137A
- Category
- Article
- ISSN
- 1552-4825
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