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Article

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Human mutation - 1 Sept 2004

Gallou Catherine, Chauveau Dominique, Richard Stéphane, Joly Dominique, Giraud Sophie, Olschwang Sylviane, Martin Natacha, Saquet Céline, Chrétien Yves, Méjean Arnaud, Correas Jean-Michel, Benoît Gérard, Colombeau Pierre, Grünfeld Jean-Pierre, Junien Claudine, Béroud Christophe

Abstract excerpt

von Hippel-Lindau (VHL) disease arises from mutations in the VHL gene and predisposes patients to develop a variety of tumors in different organs. In the kidney, single or multiple cysts and renal cell carcinomas (RCC) may occur. Both inter- and intrafamilial heterogeneity in clinical expression are well recognized. To identify VHL-dependent genetic factors, we investigated the renal phenotype in 274 individuals...

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Source

Identifiers

PMID: 15300849
DOI: 10.1002/humu.20082

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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