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Hand involvement in Schmid metaphyseal chondrodysplasia

✍ Scribed by Alison M. Elliott; Fiona M. Field; David L. Rimoin; Ralph S. Lachman


Book ID
101446951
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
108 KB
Volume
132A
Category
Article
ISSN
1552-4825

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Mutations of COL10A1 in Schmid metaphyse
✍ John F. Bateman; Richard Wilson; Susanna Freddi; Shireen R. LamandΓ©; Ravi Savari πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 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