Article

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

2022-12-18

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular disorder causing abnormal vessel formation and characterized by autosomal dominant transmission. The associated considerable variability in symptoms and clinical severity complicate the management of the disease. In clinical routine, 3 main genes, ACVRL1 (also known as ALK1 ), ENG and SMAD4 are screened for pathogenic variants at the origin of HHT....

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Literature Corpus work: 60f4892c-4bd6-5a9f-858f-f7eaa14e5212
DOI: 10.1101/2022.12.18.520932

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