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Article

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

European journal of medical genetics - 1 Mar 2015

Park Hyunwoong, Hong Susie, Cho Sung Im, Cho Tae-Joon, Choi In Ho, Jin Dong-Kyu, Sohn Young Bae, Park Sung Won, Cho Hyun-Hae, Cheon Jung-Eun, Kim So Yeon, Kim Ji Yeon, Park Sung Sup, Seong Moon-Woo

Abstract excerpt

Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. MCDS is a relatively common form of MCD. Most mutations that cause MCDS occur within the carboxyl-terminal non-collagenous domain (NC1) of the COL10A1 gene. We performed mutational analysis of the COL10A1 genes in 4 unrelated Korean patients with diagnosed...

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PMID: 25542771
DOI: 10.1016/j.ejmg.2014.12.011

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Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.PMID 25542771Read ↗

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