Published online by Cambridge University Press: 23 April 2012
Mutations that exaggerate signalling of the receptor tyrosine kinase fibroblast growth factor receptor 3 (FGFR3) give rise to achondroplasia, the most common form of dwarfism in humans. Here we review the clinical features, genetic aspects and molecular pathogenesis of achondroplasia and examine several therapeutic strategies designed to target the mutant receptor or its signalling pathways, including the use of kinase inhibitors, blocking antibodies, physiologic antagonists, RNAi and chaperone inhibitors. We conclude by discussing the challenges of treating growth plate disorders in children.
Little People of America (LPA), a support group for patients and parents of patients with achondroplasia and other forms of dwarfism, provides much information about the clinical management of achondroplasia as well as social and medical support for patients and their families:
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