VARIANT: 3480v2
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Entry
3480v2 Variant
Name
IGF1R mutation
Gene
IGF1R
insulin like growth factor 1 receptor [KO:
K05087
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
147370
Network
nt06324
GHRH-GH-IGF signaling
Disease
H01274
Growth delay due to insulin-like growth factor I resistance
Reference
PMID:
22654835
Authors
Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA
Title
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Journal
Front Endocrinol (Lausanne) 2:95 (2011)
DOI:
10.3389/fendo.2011.00095
Reference
PMID:
28649085
Authors
Solomon-Zemler R, Basel-Vanagaite L, Steier D, Yakar S, Mel E, Phillip M, Bazak L, Bercovich D, Werner H, de Vries L
Title
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.
Journal
Endocr Connect 6:395-403 (2017)
DOI:
10.1530/EC-17-0038
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