Article

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of <i>ENG</i> or <i>ACVRL1</i>

2019-08-10

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia (HHT) is a Mendelian disease characterized by vascular malformations including visceral arteriovenous malformations and mucosal telangiectasia. HHT is caused by loss-of-function mutations in one of 3 genes; ENG , ACVRL1 or SMAD4 and is inherited as an autosomal dominant condition. Intriguingly, the constitutional mutation causing HHT is present throughout the body, yet the...

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Literature Corpus work: 81fe6f46-7d7f-5b47-8db5-41e1e7353485
DOI: 10.1101/731588

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