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Title: Actualización del tratamiento de las rasopatias [Update on the treatment of RASopathies]
Authors: Duat Rodriguez, Anna
Hernandez-Martin, Angela
Filiation: Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
Keywords: rasopatias
Issue Date: 17-May-2017
Publisher: Viguera Editores, S. L.
Citation: Rev Neurol.2017 May;(64)s03:S13-S17
Abstract: The term 'RASopathies' covers a series of diseases that present mutations in the genes that code for the proteins of the RAS/MAPK pathway. These diseases include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. Involvement of the RAS/MAPK pathway not only increases predisposition to develop tumours, but also determines the presence of phenotypic anomalies and alterations in learning processes.
PMID: 28524213
Rights: info:eu-repo/semantics/openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos

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