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

Hussain, HMJ; Murtaza, G; Jiang, XH; Khan, R; Khan, M; Kakakhel, MBS; Khan, T; Wahab, F; Zhang, H; Zhang, YW; Khan, MB; Ahmed, P; Ma, H; Xu, ZP

Xu, ZP (reprint author), Nanjing Univ, Med Sch, Affiliated Hosp, Dept Androl,Nanjing Drum Tower Hosp, Nanjing 210008, Jiangsu, Peoples R China.; Jiang, XH; Ma, H (reprint author), Univ Sci & Technol China, Affiliated Hosp 1, Hefei 230027, Anhui, Peoples R

HORMONE RESEARCH IN PAEDIATRICS, 2019; 91 (1): 9

Abstract

Background: Congenital hypogonadotropic hypogonadism (CHH) is a heterogeneous disorder characterized by delayed or loss of puberty and infertility due......

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