Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study.

Abstract excerpt

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome resulting from mutations in the VHL gene lineage, and its prognosis is generally poor. This study aimed to provide a more valuable genotype-phenotype correlation based on the Elongin C binding site in VHL disease. METHODS: This study included 553 patients (194 families) who were diagnosed with VHL disease in our centre...

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