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TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

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作者: Nan,Yang [1] ; Nan,Wu [2] ; Ling,Zhang [3] ; Yanxue,Zhao [4] ; Jiaqi,Liu [5] ; Xiangyu,Liang [6] ; Xiaojun,Ren [7] ; Weiyu,Li [1] ; Weisheng,Chen [4] ; Shuangshuang,Dong [5] ; Sen,Zhao [4] ; Jiachen,Lin [5] ; Hang,Xiang [8] ; Huadan,Xue [1] ; Lu,Chen [1] ; Hao,Sun [4] ; Jianguo,Zhang [5] ; Jiangang,Shi [1] ; Shuyang,Zhang [4] ; Daru,Lu [5] ; Xiaohui,Wu [4] ; Li,Jin [5] ; Jiandong,Ding [1] ; Guixing,Qiu [9] ; Zhihong,Wu [1] ; James R,Lupski [9] ; Feng,Zhang [4]
作者单位: Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, China. [1] Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. [2] Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China. [3] Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [4] Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. [5] Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. [6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA. [7] State Key Laboratory of Molecular Engineering of Polymers, Department of Macromolecular Science, Fudan University, Shanghai, China. [8] Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [9] Second Department of Spine Surgery, Changzheng Hospital, The Second Military Medical University, Shanghai, China. [10] Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [11] Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Institute of Developmental Biology and Molecular Medicine, Fudan University, Shanghai, China. [12] Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [13] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. [14] Texas Children's Hospital, Houston, TX, USA. [15]
DOI 10.1093/hmg/ddy358
PMID 30307510
发布时间 2020-02-25
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Human molecular genetics

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