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Schmid type metaphyseal chondrodysplasia

Friday 28 March 2008

Etiology

- Schmid-type metaphyseal chondrodysplasia is caused by mutation in the COL10A1 gene (MIM.120110).

References

- Tan JT, Kremer F, Freddi S, Bell KM, Baker NL, Lamandé SR, Bateman JF. Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3’ UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. Am J Hum Genet. 2008 Mar;82(3):786-93. PMID: 18304492