GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

Objective: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal...

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Bibliographic Details
Main Authors: Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, Manuel C Lemos
Format: Article
Language:English
Published: Bioscientifica 2017-07-01
Series:Endocrine Connections
Subjects:
Online Access:http://www.endocrineconnections.com/content/6/6/360.full