×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
28425981
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
Antley-Bixler syndrome (ABS) represents a group of heterogeneous disorders characterized by skeletal, cardiac, and urogenital abnormalities that have frequently been associated with mutations in fibroblast growth factor receptor 2 or cytochrome P450 reductase genes.
21705796
2011
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
Antley-Bixler syndrome with normal steroidogenesis is caused by autosomal dominant gain-of-function mutations in fibroblast growth factor receptor 2 .
18259105
2008
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to fibroblast growth factor receptor 2 (FGFR2 ) mutations.
15793702
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
16061565
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
UNIPROT
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
10633130
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GermlineCausalMutation
disease
ORPHANET
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
10633130
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
CTD_human
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2 ) gene.
9605588
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2 ) gene.
9605588
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GermlineCausalMutation
disease
ORPHANET
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2 ) gene.
9605588
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome .
9605588
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
8696350
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
CausalMutation
disease
CLINVAR
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
CLINVAR