Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome

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-asoci...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617104/
https://ncbi.nlm.nih.gov/pubmed/23593218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0060439
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