TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

PURPOSE: To characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model. METHODS: Patients with congenital scoliosis (CS) from China (N=345, Cohort 1), Japan (N=142, Cohort 2), and the USA (N=10, Cohort 3) were studied. Clinically measurable endophenotypes were...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Liu, Jiaqi, Wu, Nan, Yang, Nan, Takeda, Kazuki, Chen, Weisheng, Li, Weiyu, Du, Renqian, Liu, Sen, Zhou, Yangzhong, Zhang, Ling, Liu, Zhenlei, Zuo, Yuzhi, Zhao, Sen, Blank, Robert, Pehlivan, Davut, Dong, Shuangshuang, Zhang, Jianguo, Shen, Jianxiong, Si, Nuo, Wang, Yipeng, Liu, Gang, Li, Shugang, Zhao, Yanxue, Zhao, Hong, Chen, Yixin, Zhao, Yu, Song, Xiaofei, Hu, Jianhua, Lin, Mao, Tian, Ye, Yuan, Bo, Yu, Keyi, Niu, Yuchen, Yu, Bin, Li, Xiaoxin, Chen, Jia, Yan, Zihui, Zhu, Qiankun, Meng, Xiaolu, Chen, Xiaoli, Su, Jianzhong, Zhao, Xiuli, Wang, Xiaoyue, Ming, Yue, Li, Xiao, Raggio, Cathleen L., Zhang, Baozhong, Weng, Xisheng, Zhang, Shuyang, Zhang, Xue, Watanabe, Kota, Jin, Li, Shen, Yiping, Sobreira, Nara L., Posey, Jennifer E., Giampietro, Philip, Liu, Pengfei, Wu, Zhihong, Ikegawa, Shiro, Lupski, James R., Zhang, Feng, Qiu, Guixing
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6659397/
https://ncbi.nlm.nih.gov/pubmed/30636772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0377-x
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