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Article

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.

Acta clinica Belgica - 1 Apr 2014

Vandenbriele C, Peerlinck K, de Ravel T, Verhamme P, Vanassche T

Abstract excerpt

Mutations of the ACVRL1 gene are a cause of hereditary haemorrhagic telangiectasia (HHT) type 2. In this case report, we present a patient with isolated pulmonary arterio-venous malformations (PAVMs) without other diagnostic criteria for HHT and a novel mutation in exon 10 of the ACVRL1 gene. Other mutations in exon 10 of ACVRL1 have been linked to the development of pulmonary artery hypertension, but PAVMs are a...

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Source

Identifiers

PMID: 24724759
DOI: 10.1179/0001551213Z.00000000012

Genes

ACVRL1

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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Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.PMID 24724759Read ↗

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