rs121918492
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
rs121918492
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
|
9385368 |
1997 |
rs121918492
|
|
|
0.810 |
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 |
rs121918492
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs121918492
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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 |
rs121918492
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918492
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs776587763
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
|
25361936 |
2014 |
rs776587763
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
rs776587763
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
rs121909627
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
rs776587763
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
|
10874645 |
1999 |
rs121918488
|
|
|
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 |
rs121918497
|
|
|
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 |
rs776587763
|
|
|
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 |
rs121918488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
|
9385368 |
1997 |
rs121918497
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
|
9385368 |
1997 |
rs776587763
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
|
9385368 |
1997 |
rs121918488
|
|
|
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 |
rs121918497
|
|
|
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 |
rs776587763
|
|
|
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 |
rs121918488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer.
|
8528214 |
1995 |
rs121918497
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs776587763
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs776587763
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |