Article
Skeletal disorders associated with fibroblast growth factor receptor mutations.
Current opinion in genetics & development - 1 Jun 1997
De Moerlooze L, Dickson C
Abstract excerpt
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.
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