CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system....

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Publicat a:Endocrinology
Autors principals: Hutchins, B. Ian, Kotan, L. Damla, Taylor-Burds, Carol, Ozkan, Yusuf, Cheng, Paul J., Gurbuz, Fatih, Tiong, Jean D. R., Mengen, Eda, Yuksel, Bilgin, Topaloglu, A. Kemal, Wray, Susan
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2016
Matèries:
Original Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4870868/
https://ncbi.nlm.nih.gov/pubmed/27014940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/en.2015-1846
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