A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage

Qiong Chen,Sheng-Nan Wu,Yong-Xing Chen,C. Selvaa Kumar,Lu Zhang,Hai-Yan Wei,Senthil Arun Kumar

Bone Reports（2020）

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摘要

To evaluate the clinical-phenotypic characteristics of Schmid metaphyseal chondrodysplasia (SMCD) inflicted by a novel missense mutation of COL10A1 gene: c.2020G > A; p.Gly674Arg.

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关键词

Schmid metaphyseal chondrodysplasia,COL10A1 mutation,Mutant α1(X) chain,Bowed legs,Ulna bone,Early diagnosis

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