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Article

Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report.

Journal of medical case reports - 1 Mar 2022

Walsh L J, Collins C, Ibrahim H, Kerins D M, Brady A P, O Connor T M

Abstract excerpt

INTRODUCTION: Hereditary hemorrhagic telangiectasia is an autosomal dominant condition with an estimated prevalence of 1 in 5000. It is characterized by the presence of abnormalities of vascular structures, and may affect many organ systems, including the lungs, brain, spinal cord, gastrointestinal tract, and liver. A causative mutation is identified in approximately 97% of patients with definite hereditary...

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Identifiers

PMID: 35232468
DOI: 10.1186/s13256-022-03296-9
PMCID: PMC8889686

Provenance

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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