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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Dades bibliogràfiques
Publicat a:Endocr Connect
Autors principals: Gonçalves, Catarina I, Aragüés, José M, Bastos, Margarida, Barros, Luísa, Vicente, Nuno, Carvalho, Davide, Lemos, Manuel C
Format: Artigo
Idioma:Inglês
Publicat: Bioscientifica Ltd 2017
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5527354/
https://ncbi.nlm.nih.gov/pubmed/28611058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-17-0104
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