×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
Biomarker
HPO
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
7493034 1995
×
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
CausalMutation
CLINVAR
A common FGFR3 gene mutation in hypochondroplasia.
8589686 1995
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
8589699 1995
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
8723101 1996
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
8845844 1996
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
8880573 1996
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
9042914 1997
×
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 ) defines a new craniosynostosis syndrome .
9042914 1997
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
The C749G (Pro250Arg ) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3 ) has been found in patients with various types of craniosynostosis .
9107244 1997
×
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
GeneticVariation
BEFREE
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R .
9279764 1997
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
CausalMutation
CLINVAR
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
9452043 1998
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3 .
9585583 1998
×
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
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
Achondroplasia-hypochondroplasia complex in a newborn infant.
10360392 1999
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu ) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis .
10377013 1999
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3 ).
10425034 1999
×
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
CausalMutation
CLINVAR
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
10861678 2000
×
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
CausalMutation
CLINVAR
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
11038465 2000
×
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