rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
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
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
16844695
2006
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
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
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
10945669
2000
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
11173845
2000
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
10394936
1999
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
9719378
1998
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
BEFREE
The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III.
9714439
1998
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
9693549
1998
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
9002682
1997
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
9150725
1997
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
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
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
FGFR2 mutations in Pfeiffer syndrome.
7719333
1995
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.820
GeneticVariation
UNIPROT
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
7719345
1995
rs121918502
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
C
0.820
CausalMutation
CLINVAR