×
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
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
18583390 2008
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Familial acanthosis nigricans due to K650T FGFR3 mutation.
17875876 2007
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.
17384684 2007
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
16912704 2006