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Article

Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics.

Orphanet journal of rare diseases - 29 Jun 2020

Gómez-Acebo Inés, Prado Sara Rodríguez, De La Mora Ángel, Puente Roberto Zarrabeitia, de la Roza Varela Beatriz, Dierssen-Sotos Trinidad, Llorca Javier

Abstract excerpt

BACKGROUND: The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. METHODS: A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or...

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Identifiers

PMID: 32600370
DOI: 10.1186/s13023-020-01433-5
PMCID: PMC7322834

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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