Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All affected offspring were shown to be carriers of a partial trisomy of chromosome 14 including the FGFR2 gene, which is associated with various dominant inherited craniofacial dysostosis syndromes in man, and partial monosomy of chromosome 8 containing MSX1 known to be associated with tooth agenesis and orofacial clefts in other species.
|
31068123 |
2019 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
31318164 |
2019 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report.
|
31640617 |
2019 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2.
|
31463736 |
2019 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a FGFR2 mutation (p.G338R, c.1012G > C) in a Chinese family with Crouzon syndrome.
|
29848297 |
2018 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Despite long axial lengths, shallow anterior chambers with occluded angles are possible in Crouzon syndrome and are most likely caused by FGFR2-related anterior segment dysgenesis.
|
29557836 |
2018 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes.
|
28768473 |
2017 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings expand the mutation spectrum of FGFR2, and are valuable for genetic counseling in addition to prenatal diagnosis in patients with Crouzon syndrome.
|
28901406 |
2017 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Minor suture fusion occurs in most patients with FGFR2-related craniofacial dysostosis.
|
28574949 |
2017 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7).
|
27028366 |
2016 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features.
|
27430617 |
2016 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The craniofacial features in this case were in keeping with a diagnosis of Crouzon syndrome which was confirmed by molecular testing of the FGFR2 gene.
|
27891566 |
2016 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome).
|
25886248 |
2015 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
MGD |
Mechanical properties of calvarial bones in a mouse model for craniosynostosis.
|
25966306 |
2015 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is typically caused by heterozygous missense mutations in the third immunoglobulin domain of FGFR2.
|
25174698 |
2014 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The involvement of the IIIb isoform of FGFR2 in the etiopathology of Crouzon syndrome is a novel finding in the craniosynostosis literature field.
|
22872266 |
2012 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
|
22117175 |
2012 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution.
|
20635358 |
2010 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome.
|
20163525 |
2010 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
MGD |
The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling.
|
20503384 |
2010 |
Craniofacial Dysostosis
|
0.700 |
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 |