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Article

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.

Molecular genetics & genomic medicine - 1 Sept 2020

Keravnou Anna, Bashiardes Evy, Barberis Vassilis, Michailidou Kyriaki, Soteriou Marinos, Tanteles George A, Cariolou Marios A

Abstract excerpt

BACKGROUND: Thoracic aortic aneurysm and dissection (TAA/D) represents a potentially lethal disease group characterized by an increased risk of dissection or rupture. Only a small percentage (approximately 30%) of individuals with nonsyndromic familial TAA/D have a pathogenic variant in one of the genes that have been found to be associated with the disease. METHODS: A targeted sequencing panel and direct...

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Identifiers

PMID: 32597575
DOI: 10.1002/mgg3.1378
PMCID: PMC7507478

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