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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

8 Sept 2021

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance. NF1 patients show high phenotypic variabilities, including cafe-au-lait macules, freckling, or other neoplastic or non-neoplastic features. Understanding the underlying mechanisms of the...

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PMID: 34566848
DOI: 10.3389/fneur.2021.704639

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