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...

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Bibliographic Details
Published inCurrent opinion in genetics & development Vol. 7; no. 3; pp. 378 - 385
Main Authors De Moerlooze, L, Dickson, C
Format Journal Article
LanguageEnglish
Published England 01.06.1997
Subjects
Bone Diseases, Developmental - genetics
Craniosynostoses - genetics
Humans
Mutation - genetics
Receptors, Fibroblast Growth Factor - genetics
Syndrome
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Summary: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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ISSN:0959-437X
1879-0380
DOI:10.1016/S0959-437X(97)80152-9