Article
Identification of novel FBN1 variations implicated in congenital scoliosis.
Journal of human genetics - 1 Mar 2020
Lin Mao, Zhao Sen, Liu Gang, Huang Yingzhao, Yu Chenxi, Zhao Yanxue, Wang Lianlei, Zhang Yuanqiang, Yan Zihui, Wang Shengru, Liu Sen, Liu Jiaqi, Ye Yongyu, Chen Yaping, Yang Xu, Tong Bingdu, Wang Zheng, Yang Xinzhuang, Niu Yuchen, Li Xiaoxin, Wang Yipeng, Su Jianzhong, Yuan Jian, Zhao Hengqiang, Zhang Shuyang, Qiu Guixing, Ikegawa Shiro, Zhang Jianguo, Wu Zhihong, Wu Nan
Abstract excerpt
Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic CS genes remain to be elucidated. In this study, we analyzed exome sequencing (ES) data of 615...
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