|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is typically caused by heterozygous missense mutations in the third immunoglobulin domain of FGFR2.
|
25174698 |
2014 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
31318164 |
2019 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2.
|
31463736 |
2019 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2.
|
7719344 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2.
|
7719344 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
|
8956050 |
1996 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 2 (FGFR2) <sup>C342Y/+</sup> mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia.
|
29223639 |
2018 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
|
15523492 |
2005 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel FGFR2 mutation associated with tyrosine kinase II (TK-II) domain, L617F, was found in one Crouzon syndrome patient by direct PCR sequencing.
|
23913723 |
2014 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome.
|
16470531 |
2006 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome.
|
22355256 |
2012 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 gene mutation in Chinese patients with Crouzon syndrome.
|
22665975 |
2012 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
|
27028366 |
2016 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
|
9700203 |
1998 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
|
22117175 |
2012 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
|
24656465 |
2014 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.
|
7592798 |
1995 |