Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

BACKGROUND: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In thi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Guo, Xingping, Song, Chunying, Shi, Yaping, Li, Hongxia, Meng, Weijing, Yuan, Qinzhao, Xue, Jinjie, Xie, Jun, Liang, Yunxia, Yuan, Yanan, Yu, Baofeng, Wang, Huaixiu, Chen, Yun, Qi, Lixin, Li, Xinmin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5135809/
https://ncbi.nlm.nih.gov/pubmed/27912749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0355-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados