FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Congenital abnormal Synostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease BEFREE Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations. 22544111 2012
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease BEFREE Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. 20643727 2010
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease LHGDN FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. 15915095 2005
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease BEFREE At the authors' institution, mutations in FGFR3, located at chromosome 4p16, have been found to cause coronal synostosis. 11743367 2001
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease BEFREE Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. 10761652 2000
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease BEFREE None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. 9580776 1998
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.070 GeneticVariation disease BEFREE Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. 9042914 1997