Associated Papers
MFAP5 variant-induced multiple giant thoracic aortic aneurysm.
Jin Y et al.
Cardiology in the Young, 2024
Current understanding of the genetics of thoracic aortic disease.
Levy LE et al.
Vessel Plus, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G et al.
Journal of the American Heart Association, 2018
30371227 (PubMed )
Supplement: JAH3-7-e009302-s001.pdf
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Barbier M et al.
American Journal of Human Genetics, 2014
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