Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
|
10914960 |
2000 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
|
23044018 |
2012 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis.
|
22145492 |
2011 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis.
|
23239640 |
2013 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.
|
23378035 |
2013 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.
|
18818193 |
2009 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
|
15241680 |
2004 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutations.
|
15625620 |
2005 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.
|
19086028 |
2009 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Studying the calvaria and skull base, we observed abnormal cartilage and premature fusion of the synchondroses leading to modifications of foramen magnum shape and size in Fgfr3(Y367C/+) mice, ACH and FGFR3-related craniosynostoses patients.
|
24419316 |
2014 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 and exon 10 and FGFR3 exon 6) as the cause.
|
22871183 |
2013 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study is to determine whether the family has the pro250arg mutation in the gene for fibroblast growth factor receptor 3 (FGFR3), a mutation found in patients with various types of craniosynostosis.
|
11467490 |
2001 |