title: Fibroblast-growth-factor receptor mutations in human skeletal disorders.
abstract: Fibroblast-growth-factor receptors (FGFRs), members of the tyrosine-kinase receptor family, play a crucial role in signal transduction and development. Recently, unique mutations in three human FGFR-encoding genes (FGFR1-3) have been identified as the cause of a variety of skeletal disorders. Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these receptors in normal and abnormal bone development.
authors.affiliation: Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104-4399, USA.
authors.forename: M
authors.initials: M
authors.lastname: Muenke
authors.forename: U
authors.initials: U
authors.lastname: Schell
mesh_terms: D000818:Animals; D001847:Bone Diseases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor