Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

PURPOSE: Thoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phen...

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Detalles Bibliográficos
Autores principales: Weerakkody, Ruwan, Ross, David, Parry, David A., Ziganshin, Bulat, Vandrovcova, Jana, Gampawar, Piyush, Abdullah, Abdulshakur, Biggs, Jennifer, Dumfarth, Julia, Ibrahim, Yousef, Bicknell, Colin, Field, Mark, Elefteriades, John, Cheshire, Nick, Aitman, Tim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004315/
https://www.ncbi.nlm.nih.gov/pubmed/29543232
http://dx.doi.org/10.1038/gim.2018.27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004315/
https://www.ncbi.nlm.nih.gov/pubmed/29543232
http://dx.doi.org/10.1038/gim.2018.27

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