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Article

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Feb 2007

Wong Wai T, Agrón Elvira, Coleman Hanna R, Reed George F, Csaky Karl, Peterson James, Glenn Gladys, Linehan W Marston, Albert Paul, Chew Emily Y

Abstract excerpt

OBJECTIVES: To characterize the germline mutations found in a large population of persons having von Hippel-Lindau (VHL) disease mutations with the clinical characteristics of associated retinal capillary hemangioblastomas (RCHs), to measure the prevalence of RCHs among patients with VHL disease generally and specifically for each genotype category, to establish genotype-phenotype correlations between genotype...

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Source

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Identifiers

PMID: 17296901
DOI: 10.1001/archopht.125.2.239
PMCID: PMC3019103

Genes

VHL

Provenance

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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