KEGG   VARIANT: 2488v1
Entry
2488v1                      Variant                                
Name
FSHB mutation
Type
Loss of function
Gene
FSHB  follicle stimulating hormone subunit beta [KO:K05250]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 136530
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
Disease
H01253  Isolated follicle-stimulating hormone deficiency
Reference
  Authors
Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
  Title
Novel FSHbeta mutation in a male patient with isolated FSH deficiency and infertility.
  Journal
Eur J Med Genet 60:335-339 (2017)
DOI:10.1016/j.ejmg.2017.04.004
Reference
  Authors
Layman LC
  Title
Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
  Journal
Semin Reprod Med 18:5-10 (2000)
DOI:10.1055/s-2000-13470
Reference
  Authors
Layman LC, McDonough PG
  Title
Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
  Journal
Mol Cell Endocrinol 161:9-17 (2000)
DOI:10.1016/S0303-7207(99)00217-8
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