Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta | Zendy

Ruwan Weerakkody | Zendy; David Ross | Zendy; David Parry | Zendy; Bulat A. Ziganshin | Zendy; Jana Vandrovcová | Zendy; Piyush Gampawar | Zendy; Abdulshakur Abdullah | Zendy; Jennifer Biggs | Zendy; Julia Dumfarth | Zendy; Yousef Ibrahim | Zendy; Colin Bicknell | Zendy; Mark Field | Zendy; John A. Elefteriades | Zendy; Nick Cheshire | Zendy; Timothy J. Aitman | Zendy

Open Access

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

Author(s) -

Ruwan Weerakkody,

David Ross,

David Parry,

Bulat A. Ziganshin,

Jana Vandrovcová,

Piyush Gampawar,

Abdulshakur Abdullah,

Jennifer Biggs,

Julia Dumfarth,

Yousef Ibrahim,

Colin Bicknell,

Mark Field,

John A. Elefteriades,

Nick Cheshire,

Timothy J. Aitman

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2018.27

Subject(s) - medicine , aneurysm , dissection (medical) , thoracic aorta , aortic aneurysm , aorta , thoracic aortic aneurysm , cohort , radiology , aortic dissection

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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