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Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

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第一作者: Baoheng,Gui
第一单位: Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China.
作者: Baoheng,Gui [1] ; Yanning,Song [2] ; Xuyun,Hu [3] ; Hongdou,Li [4] ; Zailong,Qin [1] ; Jiasun,Su [5] ; Chuan,Li [5] ; Xin,Fan [1] ; Mengting,Li [5] ; Jingsi,Luo [1] ; Ying,Feng [5] ; Liping,Song [5] ; Shaoke,Chen [6] ; Chunxiu,Gong [7] ; Yiping,Shen [8]
作者单位: Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China. [1] National Center for Children's Health, China, Center of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, The Capital Medical University, Beijing 100045, PR China. [2] Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China. [3] Institute of Reproduction & Development, Hospital and Institute of Obstetrics & Gynecology, Fudan University, Shanghai 200011, PR China. [4] Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China. [5] Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China. Electronic address: chenshaoke123@163.com. [6] National Center for Children's Health, China, Center of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, The Capital Medical University, Beijing 100045, PR China. Electronic address: chunxiugong@sina.com. [7] Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, United States. Electronic address: yiping.shen@childrens.harvard.edu. [8]
DOI 10.1016/j.gene.2018.02.047
PMID 29462647
发布时间 2018-04-13
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2018年654卷

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