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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.

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作者: Yangong,Wang [1] ; Yiran,Xu [2] ; Chongchen,Zhou [3] ; Ye,Cheng [1] ; Niu,Qiao [4] ; Qing,Shang [5] ; Lei,Xia [3] ; Juan,Song [2] ; Chao,Gao [2] ; Yimeng,Qiao [3] ; Xiaoli,Zhang [1] ; Ming,Li [2] ; Caiyun,Ma [2] ; Yangyi,Fan [2] ; Xirui,Peng [3] ; Silin,Wu [1] ; Nan,Lv [2] ; Bingbing,Li [6] ; Yanyan,Sun [3] ; Bohao,Zhang [2] ; Tongchuan,Li [2] ; Hongwei,Li [2] ; Jin,Zhang [2] ; Yu,Su [2] ; Qiaoli,Li [1] ; Junying,Yuan [4] ; Lei,Liu [1] ; Andres,Moreno-De-Luca [1] ; Alastair H,MacLennan [2] ; Jozef,Gecz [1] ; Dengna,Zhu [7] ; Xiaoyang,Wang [8] ; Changlian,Zhu [8] ; Qinghe,Xing [2]
作者单位: Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China. [1] Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China. [2] Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China. [3] Shanghai Center for Women and Children's Health, Shanghai, China. [4] State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, National Research Center for Translational Medicine (Shanghai), and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China. [5] Department of Neurosurgery, The Affiliated Zhongshan Hospital of Fudan University, Shanghai, China. [6] Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada. [7] Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia. [8] Centre for Perinatal Medicine and Health, Institute of Clinical Science, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [9] Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China. changlian.zhu@neuro.gu.se. [10] Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China. qhxing@fudan.edu.cn. [11] Shanghai Center for Women and Children's Health, Shanghai, China. qhxing@fudan.edu.cn. [12]
DOI 10.1038/s41591-024-02912-z
PMID 38693247
发布时间 2024-05-22
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