rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
BEFREE
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
29915381
2019
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
BEFREE
To report a case of a child with Pfeiffer syndrome , unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys ).
20809772
2010
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
16844695
2006
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
BEFREE
Interestingly, two FGFR2 mutations creating cysteine residues (W290C and Y340C) caused severe forms of PS while conversion of the same residues into another amino-acid (W290G/R, Y340H) resulted in Crouzon phenotype exclusively.
16418739
2006
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
11173845
2000
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
10945669
2000
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
10394936
1999
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
9719378
1998
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
9693549
1998
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
BEFREE
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome .
9150725
1997
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome .
9150725
1997
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
9002682
1997
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
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
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
7719345
1995
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
0.840
GeneticVariation
UNIPROT
FGFR2 mutations in Pfeiffer syndrome.
7719333
1995
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
G
0.840
CausalMutation
CLINVAR
rs121918499
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Pfeiffer Syndrome
A
0.840
CausalMutation
CLINVAR