×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GermlineCausalMutation
disease
ORPHANET
Nosology and classification of genetic skeletal disorders: 2010 revision.
21438135
2011
×
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
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
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
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
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
CausalMutation
disease
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
0.970
CausalMutation
disease
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
0.970
CausalMutation
disease
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
0.970
CausalMutation
disease
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
0.970
CausalMutation
disease
CLINVAR
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
27481450
2016
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
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
Screening of patients with craniosynostosis: molecular strategy.
12884424
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
23348274
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
8957519
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
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
0.970
CausalMutation
disease
CLINVAR
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
×
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
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
Biomarker
disease
CTD_human