Article
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Journal of medical genetics - 1 Jan 2021
Zhao Sen, Zhang Yuanqiang, Chen Weisheng, Li Weiyu, Wang Shengru, Wang Lianlei, Zhao Yanxue, Lin Mao, Ye Yongyu, Lin Jiachen, Zheng Yu, Liu Jiaqi, Zhao Hengqiang, Yan Zihui, Yang Yongxin, Huang Yingzhao, Lin Guanfeng, Chen Zefu, Zhang Zhen, Liu Sen, Jin Lichao, Wang Zhaoyang, Chen Jingdan, Niu Yuchen, Li Xiaoxin, Wu Yong, Wang Yipeng, Du Renqian, Gao Na, Zhao Hong, Yang Ying, Liu Ying, Tian Ye, Li Wenli, Zhao Yu, Liu Jia, Yu Bin, Zhang Na, Yu Keyi, Yang Xu, Li Shugang, Xu Yuan, Hu Jianhua, Liu Zhe, Shen Jianxiong, Zhang Shuyang, Su Jianzhong, Khanshour Anas M, Kidane Yared H, Ramo Brandon, Rios Jonathan J, Liu Pengfei, Sutton V Reid, Posey Jennifer E, Wu Zhihong, Qiu Guixing, Wise Carol A, Zhang Feng, Lupski James R, Zhang Jianguo, Wu Nan
Abstract excerpt
BACKGROUND: Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening. METHODS: In this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS....
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