|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg).
|
10541159 |
1999 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
|
9452027 |
1998 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals.
|
9002682 |
1997 |
|
rs77543610
|
|
Apert syndrome
|
C |
0.900 |
CausalMutation
|
CLINVAR |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
|
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 |