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Article

Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.

American journal of medical genetics. Part A - 1 Nov 2012

Nishida Takeo, Faughnan Marie E, Krings Timo, Chakinala Murali, Gossage James R, Young William L, Kim Helen, Pourmohamad Tony, Henderson Katharine J, Schrum Stacy D, James Melissa, Quinnine Nancy, Bharatha Aditya, Terbrugge Karel G, White Robert I

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disease with a wide spectrum of vascular malformations (VMs) involving multiple organs. Nine to 16% of patients with HHT harbor brain arteriovenous malformations (AVMs), which can cause intracranial hemorrhage (ICH). Our objective was to study clinical manifestations of brain AVMs in patients with HHT and correlate these with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22991266
DOI: 10.1002/ajmg.a.35622
PMCID: PMC3610331

Genes

ACVRL1
ENG
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.PMID 22991266Read ↗

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