Article

Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

2023-03-29

Abstract excerpt

<title>Abstract</title> <p>Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular disorder causing abnormal vessel formation and characterized by autosomal dominant transmission. About 80% of HHT cases are caused by pathogenic coding variants in <italic>ACVRL1</italic> (also known as <italic>ALK1</italic>) and <italic>ENG</italic>, and 15% remain unexplained. We identified 2 variants, c.-79...

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Literature Corpus work: b1602a34-3416-563c-a18e-131d31009520
DOI: 10.21203/rs.3.rs-2634726/v1

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