Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients
Abstract
Von Hippel‐Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web‐based application, REDCap, that thoroughly...
Paper Details
Title
Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients
Published Date
Aug 6, 2019
Journal
Volume
96
Issue
5
Pages
461 - 467
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