KEGG   VARIANT: 2253v1
Entry
2253v1                      Variant                                
Name
FGF8 mutation
Gene
FGF8  fibroblast growth factor 8 [KO:K04358]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600483
Network
nt06361  Hypogonadotropic hypogonadism
  Element
N00876  Mutation-inactivated FGF8 to RAS-ERK signaling pathway
Disease
H00255  Hypogonadotropic hypogonadism
Reference
  Authors
Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC
  Title
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
  Journal
J Clin Endocrinol Metab 95:3491-6 (2010)
DOI:10.1210/jc.2010-0176
Reference
  Authors
Miraoui H, Dwyer A, Pitteloud N
  Title
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
  Journal
Mol Cell Endocrinol 346:37-43 (2011)
DOI:10.1016/j.mce.2011.05.042
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