Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia | BMC Medical Genetics | Full Text

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia | BMC Medical Genetics | Full Text

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...

Authors:Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang

Citation:BMC Medical Genetics 2019 20:200

Content type:Research article

Published on: 19 December 2019

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