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Article

Genetic Severity Score predicts clinical phenotype in NF2.

Journal of medical genetics - 1 Oct 2017

Halliday Dorothy, Emmanouil Beatrice, Pretorius Pieter, MacKeith Samuel, Painter Sally, Tomkins Helen, Evans D Gareth, Parry Allyson

Abstract excerpt

BACKGROUND: The clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating NF2 mutation have severe disease, while missense mutations or mosaic mutations present with a milder attenuated phenotype. Genotype-derived natural history data are important to inform discussions on prognosis and management. METHODS: We have assessed NF2 clinical...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 28848060
DOI: 10.1136/jmedgenet-2017-104519
PMCID: PMC5740551

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Source receipt: pubmed, retrieved 7 Sept 2026.

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