KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

Abstract Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin‐releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (FGFR1) is the most frequently mutated gene in CHH and is implicated in GnRH neuron de...

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Main Authors: Cheng Xu, Andrea Messina, Emmanuel Somm, Hichem Miraoui, Tarja Kinnunen, James Acierno, Nicolas J Niederländer, Justine Bouilly, Andrew A Dwyer, Yisrael Sidis, Daniele Cassatella, Gerasimos P Sykiotis, Richard Quinton, Christian De Geyter, Mirjam Dirlewanger, Valérie Schwitzgebel, Trevor R Cole, Andrew A Toogood, Jeremy MW Kirk, Lacey Plummer, Urs Albrecht, William F Crowley, Moosa Mohammadi, Manuel Tena‐Sempere, Vincent Prevot, Nelly Pitteloud
Format: Article
Language:English
Published: Springer Nature 2017-07-01
Series:EMBO Molecular Medicine
Subjects:
beta‐klotho
congenital hypogonadotropic hypogonadism
fibroblast growth factor 21
fibroblast growth factor receptor 1
Online Access:https://doi.org/10.15252/emmm.201607376
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https://doi.org/10.15252/emmm.201607376

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