VARIANT: 5449v1
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Entry
5449v1 Variant
Name
POU1F1 mutation
Gene
POU1F1
POU class 1 homeobox 1 [KO:
K09363
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
173110
Network
nt06324
GHRH-GH-IGF signaling
Disease
H00254
Growth hormone deficiency
H02036
Combined pituitary hormone deficiency
Reference
PMID:
15928241
Authors
Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT
Title
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Journal
J Clin Endocrinol Metab 90:4762-70 (2005)
DOI:
10.1210/jc.2005-0570
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