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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha: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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