European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Althoug...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: van de Laar, Ingrid M. B. H., Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Position Statement
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6868850/
https://ncbi.nlm.nih.gov/pubmed/31752940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1186-2
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