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Article

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

Orphanet journal of rare diseases - 22 Sept 2020

Giraud Sophie, Bardel Claire, Dupuis-Girod Sophie, Carette Marie-France, Gilbert-Dussardier Brigitte, Riviere Sophie, Saurin Jean-Christophe, Eyries Mélanie, Patri Sylvie, Decullier Evelyne, Calender Alain, Lesca Gaëtan

Abstract excerpt

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 TGF-β/BMP9 signaling pathway. Common visceral complications of HHT are caused by pulmonary, cerebral, or hepatic arteriovenous...

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PMID: 32962750
DOI: 10.1186/s13023-020-01533-2
PMCID: PMC7507685

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