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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Publicado en:Orphanet J Rare Dis
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea: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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