Two tests of peripheral blood by standard methods were negative for Von Hippel-Lindau mutations: A case report.

Abstract excerpt

BACKGROUND: Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms. Approximately 95-100% of individuals with clinical VHL receive a positive result when they undergo standard genetic testing on DNA extracted from blood. Here, we present the case of an individual with a clinical diagnosis of...

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