×
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
GeneticVariation
BEFREE
Studying the calvaria and skull base, we observed abnormal cartilage and premature fusion of the synchondroses leading to modifications of foramen magnum shape and size in Fgfr3(Y367C /+) mice, ACH and FGFR3 -related craniosynostoses patients.
24419316 2014
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis .
24864036 2014
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3 , or TWIST associated with craniosynostosis .
23239640 2013
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3 ) gene.
23378035 2013
×
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
GeneticVariation
BEFREE
Genetic screening ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 and exon 10 and FGFR3 exon 6) as the cause.
22871183 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
Biomarker
BEFREE
Epilepsy in Muenke syndrome: FGFR3 -related craniosynostosis .
23044018 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
GeneticVariation
BEFREE
The Muenke syndrome mutation (FGFR3 (P250R) ), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.
22872265 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
GeneticVariation
BEFREE
Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis .
22145492 2011
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Here, we report a novel mutation in exon 8 (IIIc) of FGFR3 , p.Ala334Thr , in a young boy with mild craniosynostosis .
22038757 2011