Article
FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent ‘Nonsyndromic’ Coronal Craniosynostosis
1 May 2005
Abstract excerpt
Many patients with a clinical diagnosis of "nonsyndromic" coronal craniosynostosis have been found to be heterozygous for the fibroblast growth factor receptor 3 (FGFR3) mutation Pro250Arg. The phenotype associated with this mutation is variable and lacks highly distinctive features, so it is difficult to diagnose on clinical examination alone. The authors present a retrospective study of 76 patients with...
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