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Article

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

Journal of medical genetics - 1 Apr 1996

Maher E R, Webster A R, Richards F M, Green J S, Crossey P A, Payne S J, Moore A T

Abstract excerpt

Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeochromocytoma. In a previous study of 65 VHL kindreds with defined VHL mutations we detected significant differences...

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Identifiers

PMID: 8730290
DOI: 10.1136/jmg.33.4.328
PMCID: PMC1050584

Genes

VHL

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Source receipt: pubmed, retrieved 7 Sept 2026.

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