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]

关键词 Next-generation sequencing Pathogenic variants Phenotype RECQL4 Rothmund-Thomson syndrome