Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TG...

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Main Authors: Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
HHT, Rendu-Osler
ACVRL1
Modifier gene
Hepatic arteriovenous malformation
Online Access:http://link.springer.com/article/10.1186/s13023-020-01533-2

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http://link.springer.com/article/10.1186/s13023-020-01533-2

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