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

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 and Meth...

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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Wu, Huixiao, Wang, Shuping, Li, Guimei, Yao, Yangyang, Wang, Ning, Sun, Xiaoqing, Fang, Li, Jiang, Xiuyun, Zhao, Jiajun, Wang, Yanzhou, Xu, Chao
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2021
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172203/
https://ncbi.nlm.nih.gov/pubmed/33764685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1668
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