Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review

Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review

Abstract Background Schmid‐type metaphyseal chondrodysplasia (SMCD) is a rare autosomal dominant skeletal dysplasia caused by heterozygous mutations in COL10A1, the gene which encodes collagen type X alpha 1 chain. However, its genotype–phenotype relationship has not been fully determined. Subjects...

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Bibliographic Details
Main Authors: Huixiao Wu, Shuping Wang, Guimei Li, Yangyang Yao, Ning Wang, Xiaoqing Sun, Li Fang, Xiuyun Jiang, Jiajun Zhao, Yanzhou Wang, Chao Xu
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COL10A1
schmid‐type metaphyseal chondrodysplasia
short stature
skeletal dysplasia
variant
Online Access:https://doi.org/10.1002/mgg3.1668

Internet

https://doi.org/10.1002/mgg3.1668

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