|
rs121918501
|
|
|
0.030 |
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
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The Fgfr2 ( W290R ) mouse model can be used as a model system to further investigate the cellular, molecular, and biochemical mechanisms of Crouzon syndrome.
|
22872266 |
2012 |
|
rs121918501
|
|
|
0.030 |
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 |
|
rs28931615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
|
rs79184941
|
|
|
0.020 |
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 |
|
rs121918487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals.
|
17105336 |
2006 |
|
rs121918496
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively.
|
12186468 |
2002 |
|
rs79184941
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A C-->T mutation that predicts a Ser252Leu substitution, ascertained in a boy with mild Crouzon syndrome (craniosynostosis with normal limbs) is also present in three clinically normal members of his family.
|
9002682 |
1997 |
|
rs121918487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have identified the recurrent mutation C342Y in two unrelated patients with Crouzon syndrome.
|
8650126 |
1996 |
|
rs28931615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
|
rs121918496
|
|
|
0.020 |
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 |
|
rs121913474
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
|
31318164 |
2019 |
|
rs121918505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
|
31318164 |
2019 |
|
rs1057519043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study further identified G338R FGFR2 mutation (c1012G > C) lead to inherited Crouzon syndrome.
|
29848297 |
2018 |
|
rs777169135
|
|
|
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 |
|
rs121918502
|
|
|
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 |
|
rs77543610
|
|
|
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 |
|
rs121918488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A comparison of the Fgfr2 (W290R) mouse mutant with another mouse model of Crouzon syndrome, Fgfr2 (C342R) mouse mutant, was also performed.
|
22872266 |
2012 |
|
rs1265366960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.
|
22665975 |
2012 |
|
rs1354205157
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
|
22117175 |
2012 |
|
rs974173968
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
|
22117175 |
2012 |
|
rs121918507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance.
|
15523492 |
2005 |
|
rs1490997619
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance.
|
15523492 |
2005 |
|
rs751047267
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance.
|
15523492 |
2005 |
|
rs1057519038
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively.
|
12186468 |
2002 |