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Article

Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway.

Dermatology online journal - 15 Apr 2011

Reig Irela, Boixeda Pablo, Fleta Beatriz, Morenoc Carmen, Gámez Lucía, Truchuelo Mayte

Abstract excerpt

Neurofibromatosis-Noonan syndrome is an entity that combines both features of Noonan syndrome and Neurofibromatosis type 1. This phenotypic overlap can be explained by the involvement of the RAS-MAPK pathway (mitogen-activated protein kinase) in both disorders. We report the case of a 17-year-old boy with Neurofibromatosis 1 with Noonan-like features, who complained of the progressive appearance of blue-gray...

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PMID: 21549079

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