Skeletal disorders associated with fibroblast growth factor receptor mutations.

doi:10.1016/s0959-437x(97)80152-9

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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 tha...

Topics

Bone Diseases, Developmental
Craniosynostoses
Humans
Mutation
Receptors, Fibroblast Growth Factor
Syndrome

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