𝔖 Bobbio Scriptorium
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Metaphyseal chondrodysplasia—A differential diagnosis of rickets

✍ Scribed by Prakash Vohra


Book ID
112903457
Publisher
Springer-Verlag
Year
1996
Tongue
English
Weight
346 KB
Volume
63
Category
Article
ISSN
0019-5456

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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