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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2018

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

Abstract excerpt

PURPOSE: 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. METHODS: We used a targeted polymerase chain reaction and next-generation sequencing-based...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29543232
DOI: 10.1038/gim.2018.27
PMCID: PMC6004315

Genes

FBN1

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