Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

OBJECTIVE: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal dela...

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Bibliographic Details
Published in:J Clin Res Pediatr Endocrinol
Main Authors: Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A. Kemal
Format: Artigo
Language:Inglês
Published: Galenos Publishing 2017
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5463295/
https://ncbi.nlm.nih.gov/pubmed/28008864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3908
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