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Article

BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report.

Respiratory investigation - 1 May 2014

Handa Tomohiro, Okano Yoshiaki, Nakanishi Norifumi, Morisaki Takayuki, Morisaki Hiroko, Mishima Michiaki

Abstract excerpt

The transforming growth factor-β superfamily signaling pathway is thought to be involved in the pathogenesis of pulmonary arteriovenous malformation (PAVM). However, the association between bone morphogenetic protein receptor type 2 (BMPR2) gene mutations and PAVM remains unclear. We present a case of concurrent PAVM and pulmonary arterial hypertension (PAH), with a deletion mutation in exon 6 and exon 7 of the...

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Share to Arteriovenous Malformations
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24853021
DOI: 10.1016/j.resinv.2013.08.003

Genes

BMPR2
PAH

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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