×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
Biomarker
HPO
×
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
A common FGFR3 gene mutation in hypochondroplasia.
8589686 1995
×
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
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
17033969 2006
×
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 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 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
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
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
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
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
Achondroplasia with synostosis of multiple sutures.
21739570 2011
×
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
Activating FGFR3 germline mutations cause skeletal dysplasia and craniosynostosis syndromes .
17172848 2006
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Activating mutations in the fibroblast growth factor receptor 3 (FGFR3 ) gene are responsible for several autosomal dominant craniosynostosis syndromes and chondrodysplasias i.e. hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia--a neonatal lethal dwarfism syndrome.
12461689 2002
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Craniosynostosis
0.200
GeneticVariation
BEFREE
Activating mutations of FGFR3 , a negative regulator of bone growth, are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes .
17033969 2006
×
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
Activating mutations of the FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia.
19898608 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
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
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
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
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
11879084 2002
×
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