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Article

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

Human genetics - 1 Apr 2000

Hes F, Zewald R, Peeters T, Sijmons R, Links T, Verheij J, Matthijs G, Leguis E, Mortier G, van der Torren K, Rosman M, Lips C, Pearson P, van der Luijt R

Abstract excerpt

Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct sequencing of the coding region of the VHL gene had failed to identify the family-specific...

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Source

Identifiers

PMID: 10830910
DOI: 10.1007/s004390000265

Genes

VHL

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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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