Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or the action of GnRH on the pituitary gonadotrophes. KISS1R is one of the genes which, when mutated, cause IHH and mutations of this gene are responsible for...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Res Pediatr Endocrinol
Egile Nagusiak: Nalbantoğlu, Özlem, Arslan, Gülçin, Köprülü, Özge, Hazan, Filiz, Gürsoy, Semra, Özkan, Behzat
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Galenos Publishing 2019
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878343/
https://ncbi.nlm.nih.gov/pubmed/30905142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0230
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