Genotype-phenotype correlations in von Hippel-Lindau disease
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Updated: Oct 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
1Department of Nephrology and Hypertension, University of Freiburg, Germany. neumann@mm41.ukl.uni-freiburg.de
Abstract:
A total of 146 intragenic germline mutations of the von Hippel-Lindau (VHL) gene are known and this figure is still increasing. To date, information for mutation-specific genetic counselling is insufficient, since either the total number of carriers is very low or clinical information and investigation of symptomatic and asymptomatic is incomplete. This review summarizes all known mutations and includes the centres which performed the mutation analyses and may provide further information regarding specific mutations.
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