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Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic Telangiectasia

2025-05-19

Abstract excerpt

<title>Abstract</title> Background Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. It is mainly caused by heterozygous pathogenic variants in <italic>ENG</italic> , <italic>ACVRL1</italic> or <italic>SMAD4</italic> . Somatic mosaic mutations in the functiona...

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Literature Corpus work: a2de8c29-18ba-5be3-b0aa-afada481ccca
DOI: 10.21203/rs.3.rs-6438890/v1

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