A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

BACKGROUND: Mutations in MYLK cause non-syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characterize the aortic disease and the presence of other vascular abnormalities in FTAAD caused by a deletion in...

Descripción completa

Detalles Bibliográficos
Autores principales: Hannuksela, Matias, Stattin, Eva-Lena, Klar, Joakim, Ameur, Adam, Johansson, Bengt, Sörensen, Karen, Carlberg, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008005/
https://www.ncbi.nlm.nih.gov/pubmed/27586135
http://dx.doi.org/10.1186/s12881-016-0326-y

Ejemplares similares

Ejemplares similares