rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS.
|
27683237 |
2017 |
rs4647924
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene.
|
20592905 |
2010 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred.
|
19215249 |
2009 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
rs4647924
|
|
|
0.900 |
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 |
rs4647924
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3.
|
31111620 |
2019 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.
|
22872265 |
2012 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.
|
17103449 |
2006 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
|
9600744 |
1998 |
rs4647924
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs121913105
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913116
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
rs121913482
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28931614
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28933068
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs4647924
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
|
11746040 |
2001 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
9950359 |
1999 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |