rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
C
0.800
CausalMutation
CLINVAR
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
27028366
2016
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
C
0.800
CausalMutation
CLINVAR
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
27481450
2016
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
11380921
2001
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
11173845
2000
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
10574673
1999
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
9521581
1998
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
9152842
1997
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
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
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
8956050
1996
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
8946174
1996
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
8528214
1995
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
7581378
1995
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
7655462
1995
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
7874170
1994
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
rs121918493
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
C
0.800
CausalMutation
CLINVAR
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
7874170
1994