European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

Abstract Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations (AVMs) and fistulae that may lead to pote...

詳細記述

書誌詳細

出版年:	Orphanet Journal of Rare Diseases
主要な著者:	Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager, Guido Manfredi, Troels H. Nielsen, Fabio Pagella, Marco C. Post, Catherine Rennie, Carlo Sabbà, Patrizia Suppressa, Pernille M. Toerring, Sara Ugolini, Elisabetta Buscarini, Sophie Dupuis-Girod, Claire L. Shovlin
フォーマット:	論文
言語:	英語
出版事項:	BMC 2020-06-01
オンライン･アクセス:	http://link.springer.com/article/10.1186/s13023-020-01386-9