×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniosynostosis
0.700
GeneticVariation
CLINVAR
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
17803937
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Craniosynostosis
0.700
CausalMutation
CLINVAR
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
Craniosynostosis
0.500
GeneticVariation
CLINVAR
×
Entrez Id:
58499
Gene Symbol:
ZNF462
ZNF462
Craniosynostosis
0.400
CausalMutation
CLINVAR
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
28249712
2017
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
27139183
2016
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Muenke syndrome: An international multicenter natural history study.
26740388
2016
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
25809207
2016
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
26818779
2016
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
25606676
2015
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
25691418
2015
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
25614871
2014
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
24476948
2014
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.
23437153
2013
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
22045636
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
23149434
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
23165795
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Achondroplasia with synostosis of multiple sutures.
21739570
2011
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
21510009
2011
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
The A391E mutation enhances FGFR3 activation in the absence of ligand.
21536014
2011
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
20453470
2010
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
20199409
2010
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.
19749790
2009
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.
19088846
2008
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
18976668
2008