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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617104/
https://www.ncbi.nlm.nih.gov/pubmed/23593218
http://dx.doi.org/10.1371/journal.pone.0060439

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617104/
https://www.ncbi.nlm.nih.gov/pubmed/23593218
http://dx.doi.org/10.1371/journal.pone.0060439

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