Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.

Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.

Neurofibromatosis type-1 (NF1) patients suffer from cutaneous and subcutaneous neurofibromas (CNF) and large plexiform neurofibromas (PNF). Whole gene deletions of the NF1 gene can cause a more severe phenotype compared to smaller intragenic changes. Two distinct groups of NF1 whole gene deletions a...

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Bibliographic Details
Main Authors: Lennart Well, Kimberly Döbel, Lan Kluwe, Peter Bannas, Said Farschtschi, Gerhard Adam, Victor-Felix Mautner, Johannes Salamon
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-05-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009517&type=printable
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