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Article

Genotype-phenotype correlations in VHL exon deletions.

American journal of medical genetics. Part A - 1 Oct 2009

McNeill Alisdair, Rattenberry Eleanor, Barber Richard, Killick Pip, MacDonald Fiona, Maher Eamonn R

Abstract excerpt

Von Hippel-Lindau (VHL) syndrome is a dominantly inherited familial cancer syndrome caused by mutations in the VHL gene. VHL syndrome displays marked variation in expression and analysis of genotype-phenotype correlations have led to the concept of four subtypes of VHL syndrome (Types 1, 2A-C). Type 2 subtypes of VHL syndrome are characterized by the presence of pheochromocytoma and the three Type 2 subtypes are...

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Source

Identifiers

PMID: 19764026
DOI: 10.1002/ajmg.a.33023

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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