×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
27481450
2016
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
26362256
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
GeneticVariation
CLINVAR
A novel mutation in FGFR2.
25425289
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
25361936
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
GeneticVariation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
GeneticVariation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
23348274
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
16838304
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Screening of patients with craniosynostosis: molecular strategy.
12884424
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
GeneticVariation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
9586546
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
GeneticVariation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
8644708
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
8957519
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
7773284
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
7655462
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
7874170
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
0.970
CausalMutation
CLINVAR
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994