title: Skeletal disorders associated with fibroblast growth factor receptor mutations.
abstract: Mutations in three fibroblast growth factor receptor loci underlie several autosomal dominant skeletal disorders; these include dwarfism and various craniosynostosis syndromes affecting limb and craniofacial bone patterning. A functional analysis of several of these mutations has demonstrated that a constitutive activation of the receptor kinase is a common theme.
authors.affiliation: Imperial Cancer Research Fund, London, UK. demoerlo@crf.icnet.uk
authors.forename: L
authors.initials: L
authors.lastname: De Moerlooze
authors.forename: C
authors.initials: C
authors.lastname: Dickson
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
chemical_list: D017468:Receptors, Fibroblast Growth Factor