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Article

Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.

Molecular genetics & genomic medicine - 1 May 2018

Pawlikowska Ludmila, Nelson Jeffrey, Guo Diana E, McCulloch Charles E, Lawton Michael T, Kim Helen, Faughnan Marie E

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in TGFβ/BMP9 pathway genes and characterized by vascular malformations (VM) including arteriovenous malformations (AVM) in lung, liver, and brain, which lead to severe complications including intracranial hemorrhage (ICH) from brain VM. The clinical heterogeneity of HHT suggests a role for genetic modifier effects. Common variants in...

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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: 29932521
DOI: 10.1002/mgg3.377
PMCID: PMC6014448

Genes

ADAM17
ANGPTL4
APOE
EPHB4
ITGB8
PTPN14

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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