title: Clinical spectrum of fibroblast growth factor receptor mutations.
abstract: During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.
authors.affiliation: Departamento Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. passos@usp.br
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: E W
authors.initials: EW
authors.lastname: Jabs
authors.forename: A L
authors.initials: AL
authors.lastname: Sertié
authors.forename: L G
authors.initials: LG
authors.lastname: Alonso
authors.forename: H
authors.initials: H
authors.lastname: Kitoh
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3