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Am J Hum Genet. 2003 May;72(5):1288-92. Epub 2003 Mar 26.

Elevated risk for MPNST in NF1 microdeletion patients.

Author information

1
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

Abstract

An NF1 microdeletion is the single most commonly reported mutation in individuals with neurofibromatosis type 1 (NF1). Individuals with an NF1 microdeletion have, as a group, more neurofibromas at a younger age than the group of all individuals with NF1. We report that NF1 microdeletion individuals additionally have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1 microdeletion. This should be taken into account in the medical follow-up of individuals with an NF1 microdeletion.

PMID:
12660952
PMCID:
PMC1180281
DOI:
10.1086/374821
[Indexed for MEDLINE]
Free PMC Article

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