rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
11380921
2001
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
11173845
2000
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
10574673
1999
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
9521581
1998
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
9152842
1997
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
8956050
1996
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
8946174
1996
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
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
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C ), and one new mutation for Jackson-Weiss syndrome (C342R).
8528214
1995
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
BEFREE
Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C ), and one new mutation for Jackson-Weiss syndrome (C342R).
8528214
1995
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
7655462
1995
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
7581378
1995
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
7874170
1994
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.810
GeneticVariation
UNIPROT
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
rs121918490
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
C
0.810
CausalMutation
CLINVAR