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Article

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

Nature genetics - 1 Jan 2014

Eyries Mélanie, Montani David, Girerd Barbara, Perret Claire, Leroy Anne, Lonjou Christine, Chelghoum Nadjim, Coulet Florence, Bonnet Damien, Dorfmüller Peter, Fadel Elie, Sitbon Olivier, Simonneau Gérald, Tregouët David-Alexandre, Humbert Marc, Soubrier Florent

Abstract excerpt

Pulmonary veno-occlusive disease (PVOD) is a rare and devastating cause of pulmonary hypertension that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules and is frequently associated with pulmonary capillary dilatation and proliferation. PVOD is categorized into a separate pulmonary arterial hypertension-related group in the current classification of...

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Identifiers

PMID: 24292273
DOI: 10.1038/ng.2844

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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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