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CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

   Turan, Ihsan; Hutchins, B. Ian; Hacihamdioglu, Bulent; Kotan, L. Damla; Gurbuz, Fatih; Ulubay, Ayca; Mengen, Eda; Yuksel, Bilgin; Wray, Susan; Topaloglu, A. Kemal

Context: Gonadotropin-releasing hormone neurons originate outside the central nervous systemin the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons.

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Alıntı yap

Turan, I., Hutchins, B. I., Hacihamdioglu, B., Kotan, L. D., Gurbuz, F., Ulubay, A., … Topaloglu, A. K. (2017). CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 102(6), 1816–1825. doi:10.1210/jc.2016-3391

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