Article

Genotype-Phenotype Heterogeneity in Von Hippel-Lindau Disease: A Single-Center Multidisciplinary Study

2026-02-22

Abstract excerpt

<title>Abstract</title> <p> Introduction: Von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome caused by germline mutations in the <italic>VHL</italic> tumor suppressor gene, leading to various neoplasms including hemangioblastomas, renal cell carcinoma (RCC), and pheochromocytomas. This study evaluates the clinical, radiological, and genetic profiles of two unrelated families: fa...

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Literature Corpus work: def39d1b-9379-5f86-8f21-c5c7d0ad14f4
DOI: 10.21203/rs.3.rs-8660830/v1

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