Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. Howev...

Source: BMC Medical Genetics - December 19, 2019 Category: Genetics & Stem Cells Authors: Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang Tags: Research article Source Type: research