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

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Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.27
Ruwan Weerakkody _{1,

2,

3} , David Ross ₂ , David A Parry ₂ , Bulat Ziganshin ₄ , Jana Vandrovcova ₅ , Piyush Gampawar ₂ , Abdulshakur Abdullah ₁ , Jennifer Biggs ₁ , Julia Dumfarth ₄ , Yousef Ibrahim ₃ , , Colin Bicknell ₃ , Mark Field ₆ , John Elefteriades ₄ , Nick Cheshire ₃ , Timothy J Aitman _{1,

2,

4}

Affiliation

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-phenotype relationships.

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