×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
27028366 2016
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
27481450 2016
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
25867380 2015
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
24656465 2014
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
20489451 2010
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
17251833 2007
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.
15389579 2005
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
GeneticVariation
CLINVAR
Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.
10851026 2000
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
9700203 1998
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057 1998
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
8651276 1996
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
7668257 1995
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Crouzon syndrome , characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2 .7719344 1995
×
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
Craniofacial dysostosis type 1
0.800
CausalMutation
CLINVAR
Recently mutations in fibroblast growth factor receptor 2 (FGFR2 ) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome .
7874170 1994