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Article

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Bayrak-Toydemir Pinar, Mao Rong, Lewin Susan, McDonald Jamie

Abstract excerpt

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous malformations and telangiectases. DNA testing for hereditary hemorrhagic telangiectasia has recently become available in North America, making presymptomatic screening available to relatives with a positive molecular diagnosis. This now enables practitioners to...

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Identifiers

PMID: 15266205
DOI: 10.1097/01.gim.0000132689.25644.7c

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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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