rs121918488
|
|
|
0.010 |
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 |
rs121918497
|
|
|
0.010 |
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 |
rs121918501
|
|
|
0.010 |
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 |
rs776587763
|
|
|
0.010 |
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 |
rs374608214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
rs1057519043
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
|
29037998 |
2018 |
rs121918494
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
|
27683237 |
2017 |
rs1057519036
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
|
24656465 |
2014 |
rs1057519036
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
rs121918494
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
rs1057519036
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
rs1057519043
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
rs1057519036
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
rs1057519036
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
|
10394936 |
1999 |
rs1057519036
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
rs1057519043
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
rs1057519043
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
|
7581378 |
1995 |
rs121918494
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs1057519044
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121913478
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1434545235
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554927408
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387907372
|
|
AAG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918487
|
|
|
0.710 |
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 |