Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.

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作者： Hafiz Muhammad Jafar,Hussain ^[1] ; Ghulam,Murtaza ^[2] ; Xiaohua,Jiang ^[2] ; Ranjha,Khan ^[2] ; Manan,Khan ^[2] ; Mian Basit Shah,Kakakhel ^[2] ; Teka,Khan ^[2] ; Fazal,Wahab ^[2] ; Huan,Zhang ^[2] ; Yuanwei,Zhang ^[2] ; Muhammad Bilal,Khan ^[3] ; Parvez,Ahmed ^[3] ; Hui,Ma ^[2] ; Zhipeng,Xu ^[4]

作者单位： The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, Hefei, China, jafarustc@mail.ustc.edu.cn. ^[1] The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, Hefei, China. ^[2] Armed Forces Institute of Pathology (AFIP), Combined Military Hospital (CMH), Rawalpindi, Pakistan. ^[3] Department of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China. ^[4]

关键词 Congenital hypogonadotropic hypogonadism GNRHR Gonadotropin-releasing hormone Nonsense mutation Normosmic hypogonadotropic hypogonadism