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NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.

Authors
Type
Published Article
Journal
Anticancer Research
0250-7005
Publisher
International Institute of Anticancer Research
Publication Date
Volume
34
Issue
6
Pages
3021–3030
Identifiers
PMID: 24922668
Source
Medline
Keywords
  • Elephantiasis Neuromatosa
  • Gist
  • Nf1 Truncating Mutations
  • Neurofibromatosis Type 1
  • Malignant Peripheral Nerve Sheet Tumors
  • Plexiform Neurofibroma

Abstract

This effect on protein synthesis, rather than the type of NF1 mutation, is the key to the explanation of the genotype-phenotype correlations in the context of neurofibromatosis type 1.

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