Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
|
29915381 |
2019 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia.
|
29280877 |
2018 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes.
|
27762162 |
2017 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There were 8 cases of sacrococcygeal eversion, including 2 associated with Apert or Pfeiffer syndrome and fibroblast growth factor receptor 2 (FGFR2) mutations; these have previously been reported.
|
27497702 |
2017 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.
|
25129254 |
2015 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since our patient shows typical radiological findings of Pfeiffer syndrome in hands and feet but at the same time lacks several characteristic features such as clinical signs of craniosynostosis and prominent eyes we suggest introducing the term "FGFR2 associated phenotypes" for similar cases.
|
26096994 |
2015 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
|
25867380 |
2015 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.
|
25759925 |
2015 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
|
24489893 |
2014 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
|
23532954 |
2013 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.
|
23495007 |
2013 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the presence of a pathogenic mutation.
|
24127277 |
2013 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.
|
22664175 |
2012 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The brain anomalies in PS result from the combination of mechanical deformations and intrinsic developmental disorders due to FGFR2 hyperactivity.
|
22987770 |
2012 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.
|
20809772 |
2010 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
|
19186770 |
2009 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene.
|
19066959 |
2009 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis.
|
17694057 |
2007 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data provide conclusive evidence that the mutational spectrum of FGFR2 mutations in CS and PS is wider than originally thought.
|
16418739 |
2006 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
|
16844695 |
2006 |