Associated Papers
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Wallace SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Shalata A et al.
Orphanet Journal of Rare Diseases, 2018
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.
Luyckx I et al.
Clinical Genetics, 2017
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
Hannuksela M et al.
Bmc Medical Genetics, 2016
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