Article
Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.
PloS one - 1 Jan 2013
Yeh Erika, Fanganiello Roberto D, Sunaga Daniele Y, Zhou Xueyan, Holmes Gregory, Rocha Katia M, Alonso Nivaldo, Matushita Hamilton, Wang Yingli, Jabs Ethylin W, Passos-Bueno Maria Rita
Abstract excerpt
Apert syndrome (AS), the most severe form craniosynostosis, is characterized by premature fusion of coronal sutures. Approximately 70% of AS patients carry S252W gain-of-function mutation in FGFR2. Besides the cranial phenotype, brain dysmorphologies are present and are not seen in other FGFR2-asociated craniosynostosis, such as Crouzon syndrome (CS). Here, we hypothesized that S252W mutation leads not only to...
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