Mutations in components of the RAS-MAPK pathway provide a unifying mechanism for several phenotypically overlapping, yet clinically distinct human 'neuro-cardio-facial-cutaneous' (NCFC) syndromes. These rare diseases may provide new insights into the regulation of this pathway and its role in various cancers.
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Bentires-Alj, M., Kontaridis, M. & Neel, B. Stops along the RAS pathway in human genetic disease. Nat Med 12, 283–285 (2006). https://doi.org/10.1038/nm0306-283
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DOI: https://doi.org/10.1038/nm0306-283
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