rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
BEFREE
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg , one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
24656465
2014
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
BEFREE
The Fgfr2 ( W290R ) mouse model can be used as a model system to further investigate the cellular, molecular, and biochemical mechanisms of Crouzon syndrome .
22872266
2012
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
11380921
2001
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
11173845
2000
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
10574673
1999
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
9521581
1998
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
9152842
1997
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
8946174
1996
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
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
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
8956050
1996
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
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
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
7581378
1995
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
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
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
7655462
1995
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.830
GeneticVariation
UNIPROT
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
7874170
1994
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
G
0.830
CausalMutation
CLINVAR
rs121918501
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
C
0.830
CausalMutation
CLINVAR
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.820
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918496
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.820
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.820
GeneticVariation
BEFREE
Skulls of Fgfr2(C342Y /+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals.
17105336
2006
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniofacial dysostosis type 1
0.820
GeneticVariation
UNIPROT
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002