Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

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 etiology underlying EOS patients could provide valuable information for both clinical management and prenatal screen...

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Vydáno v:J Med Genet
Hlavní autoři: 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, Ramo, Brandon, Rios, Jonathan J., Liu, Pengfei, Sutton, Vernon R., Posey, Jennifer E., Wu, Zhihong, Qiu, Guixing, Wise, Carol A., Zhang, Feng, Lupski, James R., Zhang, Jianguo, Wu, Nan
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802082/
https://ncbi.nlm.nih.gov/pubmed/32381727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106823
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