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

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 pathogen...

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Detalles Bibliográficos
Autores principales: Gach, Agnieszka, Pinkier, Iwona, Szarras-Czapnik, Maria, Sakowicz, Agata, Jakubowski, Lucjusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988261/
https://www.ncbi.nlm.nih.gov/pubmed/31996231
http://dx.doi.org/10.1186/s12958-020-0568-6

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