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Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

26 Jan 2015

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in these genes have been reported to...

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PMID: 25674101
DOI: 10.3389/fgene.2015.00001

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