Article
Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
Pediatric pulmonology - 1 May 2017
Soysal Nurcan, Eyries Mélanie, Verlhac Suzanne, Escabasse Virginie, Remus Natascha, Tamalet Aline, Rioux Jean-Yves, Franchi-Abella Stéphanie, Vasile Manuela, Robert Sarah, Delestrain Céline, Hau Isabelle, Ducou-Le Pointe Hubert, Soubrier Florent, Carette Marie-France, Epaud Ralph
Abstract excerpt
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor-like kinase 1 (ALK-1/HHT2). HHT is characterized by recurrent epistaxis, mucocutaneous telangiectasia, and vascular visceral dysplasia responsible for visceral arteriovenous malformations...
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