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

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

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) signalin...

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Bibliographic Details
Main Authors: Jamie eMcDonald, Whitney eWooderchak-Donahue, Chad eVanSant Webb, Kevin eWhitehead, David A. Stevenson, Pinar eBayrak-Toydemir
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-01-01
Series:Frontiers in Genetics
Subjects:
Genetics
arteriovenous malformation
Molecular diagnostics
HHT
Telangiectasia
Rendu-osler-weber
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00001/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00001/full

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