Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c...

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Publicado en:PLoS One
Autores principales: Huang, Xiangjun, Deng, Xiong, Xu, Hongbo, Wu, Song, Yuan, Lamei, Yang, Zhijian, Yang, Yan, Deng, Hao
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2015
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4452087/
https://ncbi.nlm.nih.gov/pubmed/26030151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0127529
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