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 |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
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 |
rs121909627
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
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 |
rs121918488
|
|
|
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 |
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 and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
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 |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918497
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs121918497
|
|
|
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 |
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 |
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 |
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
|
9385368 |
1997 |
rs776587763
|
|
|
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 |
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 |
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 |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918490
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).
|
8528214 |
1995 |
rs121918494
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant).
|
27683237 |
2017 |
rs121918496
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).
|
8528214 |
1995 |