Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

• Main Authors: Agnieszka Gach (Author), Iwona Pinkier (Author), Maria Szarras-Czapnik (Author), Agata Sakowicz (Author), Lucjusz Jakubowski (Author)
• 格式: 圖書
• 出版: BMC, 2020-01-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a rare disease, triggered by defective GnRH secretion, that is usually diagnosed in late adolescence or early adulthood due to the lack of spontaneous pubertal development. To date more than 30 genes have been associated with CHH...