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Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

5 Nov 2020

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous malformations (AVMs) in internal organs such as lungs, liver, and brain. Mutations in ENG (endoglin), ACVRL1 (ALK1), and MADH4 (Smad4) genes account for over 95% of HHT. Localized telangiectases and AVMs are present in different organs, with frequencies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33167572
DOI: 10.3390/jcm9113571

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