Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal.
|
9150725 |
1997 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal.
|
9150725 |
1997 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
|
9002682 |
1997 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
|
9002682 |
1997 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
|
8651276 |
1996 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
|
8644708 |
1996 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All mutations described so far for other craniosynostotic syndromes with associated limb anomalies--Jackson-Weiss, Pfeiffer, and Apert--also occur in the extracellular domain of FGFR2, as well as FGFR1 for Pfeiffer syndrome.
|
7493034 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients.
|
7719345 |
1995 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
|
7795583 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS.
|
7795583 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
FGFR2 mutations in Pfeiffer syndrome.
|
7719333 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients.
|
7719345 |
1995 |
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
|
27481450 |
2016 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes.
|
25706251 |
2015 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
|
25271085 |
2015 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in FGFR2.
|
25425289 |
2015 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
|
25361936 |
2014 |