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

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

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,...

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Bibliographic Details
Main Authors: Wei Wang, Cheng-Jiang Wei, Xi-Wei Cui, Yue-Hua Li, Yi-Hui Gu, Bin Gu, Qing-Feng Li, Zhi-Chao Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Neurology
Subjects:
neurofibromatosis type 1
genotype-phenotype correlation
modifier genes
NF1 gene
clinical variability
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.704639/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.704639/full

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