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

Sophie GiraudClaire BardelSophie Dupuis-GirodMarie-France CaretteBrigitte Gilbert-DussardierSophie RiviereJean-Christophe SaurinMélanie EyriesSylvie PatriEvelyne DecullierAlain CalenderGaëtan Lesca

Published in: Orphanet journal of rare diseases (2020)

In this large association study, we confirmed the strong relationship between ACVRL1 and the development of HAVMs. Common polymorphisms of ACVRL1 may also play a role in the development of HAVMs, as a modifying factor, independently of the disease-causing variants.

Keyphrases

copy number
gene expression