A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family

Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutatio...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Xiong, Qiuhong, Liu, Yi, Xue, Yu, Liu, Shichao, Wang, Jing, Li, Ping, Wu, Changxin, Yang, Yanling, Xiao, Han
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2018
Sujets:
Data Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5763142/
https://ncbi.nlm.nih.gov/pubmed/29354277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.59
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