×
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
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 recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
7670477 1995
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3 ) causes non-syndromic craniosynostosis .
10914960 2000
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis , had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes.
20707699 2010
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis , the former by constitutive activation and the latter by haploinsufficiency.
10751173 2000
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses .
9677057 1998
×
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
GeneticVariation
BEFREE
Germline specific point mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3 ) are associated with autosomal dominant human skeletal dysplasia and craniosynostosis syndromes .
11526491 2001
×
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
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
Muenke syndrome: An international multicenter natural history study.
26740388 2016
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
A common FGFR3 gene mutation in hypochondroplasia.
8589686 1995
×
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
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
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
10094188 1999
×
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
Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
18976668 2008
×
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
Achondroplasia-hypochondroplasia complex in a newborn infant.
10360392 1999
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
LHGDN
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
17414280 2007
×
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
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
11055896 2000
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis .9279753 1997
×
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