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The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.

BMC ophthalmology - 13 Aug 2024

Azimi Fatemeh, Naseripour Masood, Aghajani Ali, Kasraei Hengameh, Chaibakhsh Samira

Abstract excerpt

BACKGROUND: Patients with von Hippel-Lindau (VHL) disease are at risk of developing tumors in the eye, brain, kidney, adrenal gland, and other organs based on their gene mutations. The VHL tumor suppressor gene contains pathogenic variants responsible for these events. This meta-analysis aims to investigate the genetic differences among the various types of VHL syndrome and their correlation with the location of...

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Cancer, Hypoxia, and Metabolism
Genetic Predisposition to Disease
Hepatocellular Carcinoma Treatment and Prognosis
Mutation
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

PI3K/AKT/mTOR signaling in cancer

von Hippel-Lindau Disease

Von Hippel-Lindau Tumor Suppressor Protein

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Identifiers

PMID: 39138406
DOI: 10.1186/s12886-024-03597-1
PMCID: PMC11323439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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