Condition: Craniofacial dysostosis type 1


rs121918487 in FGFR2 gene and Craniofacial dysostosis type 1 PMID 9152842 1997 A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 8644708 1996 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.

PMID 8956050 1996 Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

PMID 7581378 1995 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PMID 8528214 1995 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 11380921 2001 Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 10851026 2000 To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells.

PMID 10574673 1999 A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 7581378 1995 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.

PMID 27481450 2016 FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

PMID 27028366 2016 Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 15389579 2005 P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.

PMID 17251833 2007 Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.

PMID 25867380 2015 Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.

PMID 20489451 2010 Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.

PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PMID 7668257 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PMID 8651276 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

PMID 24656465 2014 We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).

PMID 9700203 1998 Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.