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Article

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.

PloS one - 1 Jan 2024

Hwang Sungsoon, Kang Se Woong, Kim Jong-Won, Kim Sang Jin

Abstract excerpt

This scientific report aims to investigate the genotype-phenotype correlations of retinal hemangioblastoma (RH) in von Hippel-Lindau (VHL) disease. The study included 77 patients with genetically confirmed VHL disease who visited an ophthalmology clinic for the evaluation of RH. The presence, location, and size of RH were evaluated, Patients were categorized into three groups based on variants: HIF-1α binding...

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Share to Hypoxia-Inducible Factor 1, alpha Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

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Source

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Identifiers

PMID: 39374255
DOI: 10.1371/journal.pone.0311665
PMCID: PMC11458008

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