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Article

Genotype-phenotype correlation in von Hippel-Lindau disease.

Acta ophthalmologica - 1 Dec 2021

Reich Michael, Jaegle Sabine, Neumann-Haefelin Elke, Klingler Jan-Helge, Evers Charlotte, Daniel Moritz, Bucher Felicitas, Ludwig Franziska, Nuessle Simone, Kopp Julia, Boehringer Daniel, Reinhard Thomas, Lagrèze Wolf A, Lange Clemens, Agostini Hansjuergen, Lang Stefan J

Abstract excerpt

BACKGROUND/AIMS: Retinal haemangioblastomas (RH) remain a major cause of visual impairment in patients with von Hippel-Lindau (VHL) disease. Identification of genotype-phenotype correlation is an important prerequisite for better management, treatment and prognosis. METHODS: Retrospective, single-centre cohort study of 200 VHL patients. Genetic data and date of onset of RH, central nervous system...

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Identifiers

PMID: 33720516
DOI: 10.1111/aos.14843

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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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