Article
A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.
Clinical laboratory - 1 Jan 2015
Hu Xiuhui, Zhang Xiaochen, Li Yanan, Lou Pingping, Li Xiaojing, Jiang Ling
Abstract excerpt
BACKGROUND: Schmid type metaphyseal chondrodysplasia (MCDS) is a kind of autosomal inherited epiphyseal dysplasia caused by a mutation of the COL10A1 gene. Clinical expression of this mutation includes a waddling gait, coxa vara, genu varus or genu valgus and shortened lower limbs among others. To date, over 40 kinds of heterozygous mutations have been identified in the collagen domain of COL10A1 but data on...
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