Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder, characterized by recurrent epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVMs) in various visceral organs. Endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1; ALK1),...

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Main Authors: Kim, Mi-Jung, Kim, Seon-Tae, Lee, Hyoung-Doo, Lee, Kyu-Yong, Seo, Jiyoung, Lee, Jae-Bom, Lee, Young-Jae, Oh, Suk P
Format: Artigo
Language:Inglês
Published: BioMed Central 2011
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3202234/
https://ncbi.nlm.nih.gov/pubmed/21967607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-130
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