×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
BEFREE
Together, these results identify a role for Fgfr2 in development of the middle ear skeletal tissues and suggest potential causes for conductive hearing loss in LADD syndrome .
30253032
2019
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
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
0.730
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
0.730
Biomarker
disease
BEFREE
Genetic studies have implicated heterozygous mutations in fibroblast growth factor 10 (FGF10) and in FGF receptor 2 (FGFR2 ) in LADD syndrome .
17682060
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GeneticVariation
disease
UNIPROT
We aimed to elucidate the mechanism by which a missense mutation in the tyrosine kinase domain of FGFR2 , described in the sporadic case of LADD syndrome , leads to reduced tyrosine kinase activity.
18056630
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
AlteredExpression
disease
BEFREE
Structural basis for reduced FGFR2 activity in LADD syndrome : Implications for FGFR autoinhibition and activation.
18056630
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GermlineCausalMutation
disease
ORPHANET
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
GENOMICS_ENGLAND
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GeneticVariation
disease
UNIPROT
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
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
0.730
Biomarker
disease
CTD_human
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
CausalMutation
disease
CLINVAR