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FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes 

FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes
FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes

Andrew O. M. Wilkie

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date: 28 February 2021

Mutations in three of the four fibroblast growth factor receptors (FGFR1, FGFR2, and FGFR3) have been identified in congenital disorders with a very wide variety of phenotypes. Several features make these mutations of particular interest. The associated clinical conditions are, collectively, a common cause of monogenic disease; the mutation rates for several of these disorders are exceptionally high, and reveal a novel mechanism of disease through the selection of spermatogonial mutations; FGFR mutations illustrate the close link between developmental disorders and cancer; and the diversity of phenotypes is reflected in a diversity of mechanisms of molecular pathogenesis, making FGFR mutations a paradigm for understanding the many bases of genetic dominance. The mutant phenotypes have given important clues to the roles of FGFRs in the development of epiphyseal plate, cranial sutures, limb bud and olfactory neurons, amongst other structures. The accompanying Chapter 66 gives an introduction to FGFR structure and biology, which is not detailed here.

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