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Article

von Hippel-Lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Mar 2003

Miyagawa Yasuhiro, Nakazawa Mitsuru, Noda Yasuko, Ito Shoichi, Ohguro Hiroshi

Abstract excerpt

BACKGROUND: von Hippel-Lindau disease (VHL), also called angiomatosis retinae, is inherited as an autosomal dominant trait. It is frequently associated with other tumors in the central nervous system, kidneys, or adrenal glands. In order to investigate the relationship between genotype and corresponding phenotypes, we performed molecular genetic analysis in a Japanese patient with VHL type 2A. METHODS: After...

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Identifiers

PMID: 12644949
DOI: 10.1007/s00417-003-0631-y

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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