Article
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
Experimental dermatology - 1 Jul 2017
Peltonen Sirkku, Kallionpää Roope A, Peltonen Juha
Abstract excerpt
Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin, and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in the NF1 gene which encodes the tumor suppressor protein neurofibromin. Neurofibromin functions as a Ras-GTPase-activating protein (RasGAP), and NF1 mutations lead to overactivation of the Ras...
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