Condition: AORTIC ANEURYSM, FAMILIAL THORACIC 7


rs1382893400 in MYLK gene and AORTIC ANEURYSM, FAMILIAL THORACIC 7 PMID 21055718 2010 Mutations in myosin light chain kinase cause familial aortic dissections.

PMID 28401540 2017 Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

rs387906781 in MYLK;MYLK-AS1 gene and AORTIC ANEURYSM, FAMILIAL THORACIC 7 PMID 21055718 2010 Mutations in myosin light chain kinase cause familial aortic dissections.