|
rs121918499
|
|
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
|
|
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
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs121918499
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
|
16844695 |
2006 |
|
rs121918499
|
|
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
|
|
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
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
|
rs121918499
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
|
10945669 |
2000 |
|
rs121918499
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
|
10394936 |
1999 |
|
rs121918499
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
|
9719378 |
1998 |
|
rs121918499
|
|
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
|
|
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
|
|
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
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
|
9002682 |
1997 |
|
rs121918499
|
|
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
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
|
7719345 |
1995 |
|
rs121918499
|
|
Pfeiffer Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
FGFR2 mutations in Pfeiffer syndrome.
|
7719333 |
1995 |
|
rs121918499
|
|
Pfeiffer Syndrome
|
G |
0.840 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918499
|
|
Pfeiffer Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918488
|
|
Pfeiffer Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.
|
25759925 |
2015 |
|
rs121918488
|
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Substitution of Cys342 by Ser or other amino acids (Arg/Phe/Try/Tyr) has been previously reported in Crouzon and Pfeiffer syndrome.
|
26362256 |
2015 |
|
rs121918488
|
|
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 |
|
rs121918488
|
|
Pfeiffer Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
rs121918488
|
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs121918488
|
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
|
16844695 |
2006 |