|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For example, we have identified 10 different mutations in the FGFR2 extracellular immunoglobulin III (IgIII) domain in 50% (16/32) of our Crouzon syndrome patients.
|
7493034 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.
|
7581378 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.
|
7581378 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.
|
7592798 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome.
|
7607643 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2.
|
7719344 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2.
|
7719344 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis).
|
7719345 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
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 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186.
|
7806229 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome.
|
7874170 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome.
|
7874170 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome.
|
7874170 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome.
|
7987400 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome.
|
7987400 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
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 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
|
8651276 |
1996 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
|
Craniofacial dysostosis type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of FGFR2 due to aberrant intermolecular disulfide-bonding.
|
8755573 |
1996 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures.
|
8880573 |
1996 |