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Article

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Accepted version

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2015-08

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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/126649

The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic Approach

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https://doi.org/10.1002/ajmg.a.37089

Abstract

The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach was held at the Renaissance Orlando at SeaWorld Hotel (August 2-4, 2013). Seventy-one physicians and scientists attended the meeting, and parallel meetings were held by patient advocacy groups (CFC International, Costello Syndrome Family Network, NF Network and Noonan Syndrome Foundation). Parent and patient advocates opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes, to identification of therapeutic targets in the RAS/MAPK pathway, to preclinical drug development and testing, to clinical trials. These proceedings will review the major points of discussion.

Subject

Neurofibromatosi, Síndrome de Noonan

Subject (English)

Neurofibromatosis, Noonan Syndrome

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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KORF, Bruce, et al. The Third International Meeting on Genetic Disorders in the
RAS/MAPK Pathway: Toward a Therapeutic Approach. American Journal of Medical Genetics Part A. 2015. Vol. 167, num. 8, pags. 1741-1746. [consulted: 8 of August of 2026]. Available at: https://hdl.handle.net/2445/126649

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