Identification of novel FBN1 variations implicated in congenital scoliosis

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 monoge...

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發表在:J Hum Genet
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Springer Singapore 2019
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6983459/
https://ncbi.nlm.nih.gov/pubmed/31827250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-019-0698-x
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