𝔖 Bobbio Scriptorium
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Chondrodysplasia, type Schmid

✍ Scribed by P. Kiss


Book ID
105434528
Publisher
Springer-Verlag
Year
1989
Tongue
English
Weight
366 KB
Volume
20
Category
Article
ISSN
0301-0449

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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