Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Xiong, Qiuhong, Liu, Yi, Xue, Yu, Liu, Shichao, Wang, Jing, Li, Ping, Wu, Changxin, Yang, Yanling, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763142/
https://www.ncbi.nlm.nih.gov/pubmed/29354277
http://dx.doi.org/10.1038/hgv.2017.59