Article
Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.
Human mutation - 1 Nov 2017
Gao Wenjie, Chen Chong, Zhou Taifeng, Yang Shulan, Gao Bo, Zhou Hang, Lian Chengjie, Wu Zizhao, Qiu Xianjian, Yang Xiaoming, Alattar Esam, Liu Wentao, Su Deying, Sun Silong, Chen Yulan, Cheung Kenneth M C, Song Youqiang, Luk Keith K D, Chan Danny, Sham Pak Chung, Xing Chao, Khor Chiea Chuen, Liu Gabriel, Yang Junlin, Deng Yubin, Hao Dingjun, Huang Dongsheng, Li Quan-Zhen, Xu Caixia, Su Peiqiang
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder characterized by three-dimensional spinal curvatures, affecting 2%-3% of school age children, yet the causes underlying AIS are not well understood. Here, we first conducted a whole-exome sequencing and linkage analysis on a three-generation Chinese family with autosomal-dominant (AD) AIS, and then performed targeted sequencing in a discovery...
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