Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1135 | Endocrine tumours | ECE2015

Genotype-phenotype correlations in a series of patients with von Hippel-Lindau disease in one single tertiary centre

Furnica Raluca Maria , Janin Nicolas , Maiter Dominique

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumour syndrome with an important phenotypic variability. Genetic testing for VHL is simple and accurate.Objective: In this study, we investigated the relationships between genotype and phenotype in a series of patients with different VHL gene mutations.Method: This was a retrospective analysis of the clinical and molecular characteristics of 15 VHL pati...