Pfeiffer Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
PFEIFFER SYNDROME, TYPE III
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
FGFR2 mutations in Pfeiffer syndrome.
|
7719333 |
1995 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
|
7719345 |
1995 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
|
7581378 |
1995 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
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 |
Apert syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
|
8956050 |
1996 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
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 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
|
9002682 |
1997 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
|
9150725 |
1997 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
|
9719378 |
1998 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III.
|
9714439 |
1998 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
|
9693549 |
1998 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
UNIPROT |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
|
10394936 |
1999 |
Apert syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
|
10406670 |
1999 |