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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Reprod Biol Endocrinol
Main Authors: Gach, Agnieszka, Pinkier, Iwona, Szarras-Czapnik, Maria, Sakowicz, Agata, Jakubowski, Lucjusz
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6988261/
https://ncbi.nlm.nih.gov/pubmed/31996231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12958-020-0568-6
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