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Article

von Hippel-Lindau disease: a clinical and scientific review.

European journal of human genetics : EJHG - 1 Jun 2011

Maher Eamonn R, Neumann Hartmut Ph, Richard Stéphane

Abstract excerpt

The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly...

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Source

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Identifiers

PMID: 21386872
DOI: 10.1038/ejhg.2010.175
PMCID: PMC3110036

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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