Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder mostly characterized by gonadotropins release and/or action deficiencies. Both isolated (idiopathic hypogonadotropic hypogonadism) and syndromic (Kallmann) forms are identified depending on the olfactory ability. Clin...

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Detalhes bibliográficos
Publicado no:J Assist Reprod Genet
Main Authors: Moalla, Mariam, Hadj Kacem, Faten, Al-Mutery, Abdullah Fahad, Mahfood, Mona, Mejdoub-Rekik, Nabila, Abid, Mohamed, Mnif-Feki, Mouna, Hadj Kacem, Hassen
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2019
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6603098/
https://ncbi.nlm.nih.gov/pubmed/31073722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-019-01468-z
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