Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.

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第一作者： Wencui,Wang

第一单位： Department of Endocrine and Metabolic Diseases, Shanghai Jiao Tong University School of Medicine, Ruijin Hospital, Shanghai National Clinical Center for Endocrine and Metabolic Diseases, Shanghai, 200025, PR China.

作者： Wencui,Wang ^[1] ; Rulai,Han ^[2] ; Zuwei,Yang ^[1] ; Sichang,Zheng ^[1] ; Haorong,Li ^[1] ; Zhihan,Wan ^[1] ; Yan,Qi ^[1] ; Shouyue,Sun ^[3] ; Lei,Ye ^[4] ; Guang,Ning ^[5]

作者单位： Department of Endocrine and Metabolic Diseases, Shanghai Jiao Tong University School of Medicine, Ruijin Hospital, Shanghai National Clinical Center for Endocrine and Metabolic Diseases, Shanghai, 200025, PR China. ^[1] Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai, 200025, PR China. ^[2] Department of Endocrine and Metabolic Diseases, Shanghai Jiao Tong University School of Medicine, Ruijin Hospital, Shanghai National Clinical Center for Endocrine and Metabolic Diseases, Shanghai, 200025, PR China. Electronic address: ssy10926@rjh.com.cn. ^[3] Department of Endocrine and Metabolic Diseases, Shanghai Jiao Tong University School of Medicine, Ruijin Hospital, Shanghai National Clinical Center for Endocrine and Metabolic Diseases, Shanghai, 200025, PR China. Electronic address: lei_yelei@163.com. ^[4] Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai, 200025, PR China. Electronic address: gning@sibs.ac.cn. ^[5]

关键词 CYP21A2 Congenital adrenal hyperplasia Gene panel Molecular diagnosis Next-generation sequencing