Open AccessDiagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Author(s) -
Sen Zhao,
Yuanqiang Zhang,
Weisheng Chen,
Weiyu Li,
Shengru Wang,
Lianlei Wang,
Yanyang Zhao,
Min Lin,
Yongyu Ye,
Jiachen Lin,
Yu Zheng,
Jiaqi Liu,
Hengqiang Zhao,
Zihui Yan,
Yongxin Yang,
Yingzhao Huang,
Guanfeng Lin,
Zefu Chen,
Zhen Zhang,
Sen Liu,
Lichao Jin,
Zhaoyang Wang,
Jingdan Chen,
Yuchen Niu,
Xiaoxin Li,
Yong Wu,
Yipeng Wang,
Renqian Du,
Na Gao,
Hong Zhao,
Ying Yang,
Ying Li,
Ye Tian,
Wenli Li,
Yu Zhao,
Jia Liu,
Bin Yu,
Na Zhang,
Kai Yu,
Yang Xu,
Shugang Li,
Yuan Xu,
Jianhua Hu,
Zhe Liu,
Jianxiong Shen,
Shuyang Zhang,
Jianzhong Su,
Anas M. Khanshour,
Yared H. Kidane,
Brandon Ramo,
Jonathan J. Rios,
Pengfei Liu,
V. Reid Sutton,
Jennifer E. Posey,
Zhihong Wu,
Guixing Qiu,
Carol Wise,
Feng Zhang,
James R. Lupski,
Jianguo Zhang,
Nan Wu
Publication year - 2020
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2019-106823
Subject(s) - scoliosis , medicine , cohort , exome sequencing , pediatrics , etiology , prenatal diagnosis , cobb angle , medical diagnosis , pathology , surgery , genetics , pregnancy , phenotype , biology , fetus , gene
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 aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening.