Article
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.
BMC medical genetics - 3 Dec 2016
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
Abstract excerpt
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 this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were...
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