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Article

Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Dec 2020

Topiwala Karan K, Patel Smit D, Nouh Amre M, Alberts Mark J

Abstract excerpt

Pulmonary arteriovenous malformations (PAVMs) are pathologic low-resistance conduits between a pulmonary artery and vein. Over 80% PAVMs occur in patients with hereditary hemorrhagic telangiectasia (HHT) and result from mutations in the transforming growth factor-beta signaling pathway. Mutations in the Growth Differentiation Factor 2 (GDF2) gene have recently been described to result in a vascular-anomaly...

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Source

Identifiers

PMID: 32992168
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105301

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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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