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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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Bibliografiset tiedot
Julkaisussa:J Med Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
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Linkit: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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