Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia
Ludmila Pawlikowska; Jeffrey Nelson; Diana E. Guo; Charles E. McCulloch; Michael T. Lawton; Helen Kim; Marie E. Faughnan · 2018 · Molecular Genetics & Genomic Medicine
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Abstract
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 loci that modify phenotype severity in Tgfb knockout mice were previously reported as associated with lung AVM in HHT. Common variants in candidate genes were reported as associated wit
Abstract by Ludmila Pawlikowska; Jeffrey Nelson; Diana E. Guo; Charles E. McCulloch; Michael T. Lawton; Helen Kim; Marie E. Faughnan, Molecular Genetics & Genomic Medicine (2018) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1002/mgg3.377