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Article

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

Journal of medical genetics - 1 Apr 2011

Sharif Saba, Upadhyaya Meena, Ferner Rosalie, Majounie Elisa, Shenton Andrew, Baser Michael, Thakker Nalin, Evans D Gareth

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) affects 1 in 2500 people, and 15% of these may develop an optic pathway glioma (OPG). OPGs behave differently in NF1, and, given their frequency, surveillance is important. However, this is difficult because of the additional complications these patients may have, such as learning difficulties. Management is also different given that NF1 results from loss of function of...

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PMID: 21278392
DOI: 10.1136/jmg.2010.081760

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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