Article
Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2006
Giordano P, Nigro A, Lenato G M, Guanti G, Suppressa P, Lastella P, DE Mattia D, Sabbà C
Abstract excerpt
BACKGROUND: Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular disorder. The syndrome is characterized by telangiectases and arteriovenous malformations (AVMs) affecting skin, mucosae and internal organs. AVMs often remain clinically silent until provoking sudden serious complications, responsible for important morbidity and mortality which can occur both...
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