×
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
×
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
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing.
11380921 2001
×
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
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a "clinically normal"-appearing father.
10574673 1999
×
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
×
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
×
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
×
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
×
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
×
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
×
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
×
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
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.
7581378 1995
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
Recently mutations in fibroblast growth factor receptor 2 (FGFR2 ) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome .
7874170 1994
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
UNIPROT
We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2 ) cause Crouzon syndrome .
7987400 1994