TY  - JOUR
AU  - Xu, Cheng
AU  - Messina, Andrea
AU  - Somm, Emmanuel
AU  - Miraoui, Hichem
AU  - Kinnunen, Tarja
AU  - Acierno, James
AU  - Niederländer, Nicolas J
AU  - Bouilly, Justine
AU  - Dwyer, Andrew A
AU  - Sidis, Yisrael
AU  - Cassatella, Daniele
AU  - Sykiotis, Gerasimos P
AU  - Quinton, Richard
AU  - De Geyter, Christian
AU  - Dirlewanger, Mirjam
AU  - Schwitzgebel, Valérie
AU  - Cole, Trevor R
AU  - Toogood, Andrew A
AU  - Kirk, Jeremy Mw
AU  - Plummer, Lacey
AU  - Albrecht, Urs
AU  - Crowley, William F
AU  - Mohammadi, Moosa
AU  - Tena-Sempere, Manuel
AU  - Prevot, Vincent
AU  - Pitteloud, Nelly
PY  - 2017
DO  - 10.15252/emmm.201607376
UR  - http://hdl.handle.net/10668/11454
T2  - EMBO molecular medicine
AB  - 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...
LA  - en
PB  - EMBO Press
KW  - Beta‐klotho
KW  - Congenital hypogonadotropic hypogonadism
KW  - Fibroblast growth factor 21
KW  - Fibroblast growth factor receptor 1
KW  - Animals
KW  - COS cells
KW  - Caenorhabditis elegans
KW  - Chlorocebus aethiops
KW  - Cohort studies
KW  - Female
KW  - Fibroblast growth factors
KW  - Gonadotropin-releasing hormone
KW  - HEK293 cells
KW  - Humans
KW  - Hypothalamus
KW  - Kallmann syndrome
KW  - Klotho proteins
KW  - Male
KW  - Membrane proteins
KW  - Mice, inbred C57BL
KW  - Mice, mutant strains
KW  - Neurons
KW  - Receptor, fibroblast growth factor, type 1
TI  - KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
TY  - research article
VL  - 9
ER  -