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Article

Genetic testing and screening of individuals at risk of NF2.

Clinical genetics - 1 Nov 2012

Evans D G, Raymond F L, Barwell J G, Halliday D

Abstract excerpt

Genetic testing and management of the at-risk individual for neurofibromatosis type 2 (NF2) is complicated by the well-documented risk of mosaicism that causes a milder later onset more asymmetrical disease course. Risks of NF2 were derived from genetic testing of over 1000 individuals through the Manchester NF2-testing service. Individuals are at risk of NF2 or have 'potential' NF2 if they have features of the...

Topics

Adult
Chromosomes, Human, Pair 22
England
Genes, Neurofibromatosis 2
Genetic Testing
Humans
Magnetic Resonance Imaging
Middle Aged
Mosaicism
Mutation
Neurofibromatosis 2
Practice Guidelines as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

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Identifiers

PMID: 22098617
DOI: 10.1111/j.1399-0004.2011.01816.x

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