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

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

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.A female child aged about 3 yrs. and 8 months was subjected to Radiograph test to validate the symptoms of SMCD. The p...

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Bibliographic Details
Main Authors: Qiong Chen, Sheng-Nan Wu, Yong-Xing Chen, Selvaa Kumar C., Lu Zhang, Hai-Yan Wei, Senthil Arun Kumar
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Bone Reports
Subjects:
Schmid metaphyseal chondrodysplasia
COL10A1 mutation
Mutant α1(X) chain
Bowed legs
Ulna bone
Early diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187219300464

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