Article
Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.
Proceedings of the National Academy of Sciences of the United States of America - 9 Feb 2010
Snyder-Warwick Alison K, Perlyn Chad A, Pan Jing, Yu Kai, Zhang Lijuan, Ornitz David M
Abstract excerpt
Cleft palate is a common birth defect in humans and is a common phenotype associated with syndromic mutations in fibroblast growth factor receptor 2 (Fgfr2). Cleft palate occurred in nearly all mice homozygous for the Crouzon syndrome mutation C342Y in the mesenchymal splice form of Fgfr2. Mutant embryos showed delayed palate elevation, stage-specific biphasic changes in palate mesenchymal proliferation, and...
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