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Article

Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.

Laboratory medicine - 3 Jul 2024

Sadeghipour Parham, Valuian Marzieh, Ghasemi Serwa, Rafiee Farnaz, Pourirahim Maryam, Mahmoodian Mehran, Maleki Majid, Kalayinia Samira

Abstract excerpt

BACKGROUND: Thoracic aortic aneurysm (TAA) is a multifactorial disorder. Familial TAA, which is more clinically aggressive, is associated with a high risk of lethal dissection or rupture. Genetic evaluation can provide TAA patients with personalized treatment and help in predicting risk to family members. OBJECTIVE: The purpose of this investigation was to report a likely pathogenic variant in the EFEMP2 gene...

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Identifiers

PMID: 38113391
DOI: 10.1093/labmed/lmad109

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