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Article

Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.

Transactions of the American Ophthalmological Society - 1 Jan 2005

Chew Emily Ying

Abstract excerpt

PURPOSE: To describe the clinical spectrum of lesions involving the visual system in von Hippel-Lindau (VHL) disease, the genetic alterations, and the molecular genetic properties of retinal hemangioblastomas. METHODS: In this prospective case-series, 406 patients with VHL disease had systemic and ocular evaluations. Genetic mutations within six pathological specimens were evaluated, using microdissection and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17057815
PMCID: PMC1447586

Genes

VHL

Provenance

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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