×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome .
8696350
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
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
0.970
CausalMutation
disease
CLINVAR
A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene.
7558045
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
Beare-Stevenson syndrome (BSS) is a rare FGFR2 -associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes.
25706251
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
CLINVAR
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
8946174
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
CLINVAR
[Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases].
12575301
2002
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
UNIPROT
The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome .
12000365
2002
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only.
11424131
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
GENOMICS_ENGLAND
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
MGD
p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
22585574
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
GENOMICS_ENGLAND
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
22387015
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
CLINVAR
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
23754559
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
7773284
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
CTD_human
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
26362256
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
9586546
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
18247426
2008
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
16838304
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
16158432
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
25271085
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
Beare-Stevenson syndrome : Two South American patients with FGFR2 analysis.
12900900
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
12884434
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
GENOMICS_ENGLAND
We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome .
8696350
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
GENOMICS_ENGLAND
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
28425981
2017