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

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...

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Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507685/
https://ncbi.nlm.nih.gov/pubmed/32962750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01533-2
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