Review
doi: 10.1016/s0959-437x(97)80152-9.
Skeletal disorders associated with fibroblast growth factor receptor mutations
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- PMID: 9229114
- DOI: 10.1016/s0959-437x(97)80152-9
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Review
Skeletal disorders associated with fibroblast growth factor receptor mutations
Curr Opin Genet Dev.
1997 Jun.
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.
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