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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Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim: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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