Skeletal disorders associated with fibroblast growth factor receptor mutations.
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.
De Moerlooze
L
L
Imperial Cancer Research Fund, London, UK. demoerlo@crf.icnet.uk
Dickson
C
C
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
D017468:Receptors, Fibroblast Growth Factor