P189 IDENTIFYING PTPN14-DEPENDENT MECHANISMS THAT INFLUENCE CLINICAL MANIFESTATIONS OF HEREDITARY HEMORRHAGIC TELANGIECTASIA

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder caused predominantly by loss of a single allele of ENG (HHT1) or ACVRL1 (HHT2). Global incidence is about 1 in 5,000. Clinical manifestations include cutaneous, mucosal and/or gastrointestinal (GI) tract telangiectases that can cause...

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Bibliographic Details
Main Author: Ons Mamai
Format: Article
Language:English
Published: Atlantis Press 2017-12-01
Series:Artery Research
Online Access:https://www.atlantis-press.com/article/125930364/view