rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
rs4647924
|
|
|
0.800 |
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 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
rs4647924
|
|
|
0.800 |
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 |
rs4647924
|
|
G |
0.800 |
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 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis.
|
10914960 |
2000 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
|
11467490 |
2001 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively.
|
14613973 |
2004 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
|
15915095 |
2005 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01).
|
18000976 |
2007 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
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 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans.
|
19086028 |
2009 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
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 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.
|
22872265 |
2012 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Muenke syndrome: An international multicenter natural history study.
|
26740388 |
2016 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding.
|
27568649 |
2016 |