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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...

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Publicado en:Case Rep Pediatr
Main Authors: Alzahrani, Ahmad J., Ahmad, Azzam, Alhazmi, Tariq, Ahmad, Lujin
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6815991/
https://ncbi.nlm.nih.gov/pubmed/31885997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/3814525
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