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Article

Future treatments for hereditary hemorrhagic telangiectasia

7 Jan 2020

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AVM) in several organs. About 90% of the cases are associated with heterozygous mutations of ACVRL1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31910860
DOI: 10.1186/s13023-019-1281-4

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