Article

Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia

2026-02-17

Abstract excerpt

<h4> Abstract </h4> Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic vascular disorder characterized by distinct vascular malformations, including deep organ arteriovenous malformations (AVMs) and mucocutaneous telangiectasias. People with HHT inherit monoallelic pathogenic variants in members of the TGFβ signaling cascade ( ACVRL1 , ENG and SMAD4 ), resulting in a loss of gene function and dysangioge...

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Literature Corpus work: 32912a21-dd7f-5746-a0f2-1eb09244da44
DOI: 10.64898/2026.02.15.706014

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