An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family

KISS1R (GPR54) mutations have been reported in several patients with congenital normosmic idiopathic hypogonadotropic hypogonadism (nIHH). We aim to describe in detail nIHH patients with KISS1R (GPR54) mutations belonging to one related extended family and to review the literature. A homozygous muta...

Descripción completa

Detalles Bibliográficos
Autores principales: Alzahrani, Ahmad J., Ahmad, Azzam, Alhazmi, Tariq, Ahmad, Lujin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815991/
https://www.ncbi.nlm.nih.gov/pubmed/31885997
http://dx.doi.org/10.1155/2019/3814525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815991/
https://www.ncbi.nlm.nih.gov/pubmed/31885997
http://dx.doi.org/10.1155/2019/3814525

Ejemplares similares