Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family membersCentral MessagePerspective

Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family membersCentral MessagePerspective

Objective: Genetic aortopathy, if left untreated, leads to aortic catastrophe in most affected individuals. We sought to determine the genetic mutation patterns and detection rates in patients with aortopathy and their families with a systematic screening protocol. Methods: In 2016 to 2020, patients...

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Main Authors: Jihoon Kim, MD, PhD, Jae Suk Yoo, MD, PhD, Hee-Jung Kim, MD, PhD, Ho Jin Kim, MD, Dae-Hee Kim, MD, PhD, Suk Jung Choo, MD, PhD, Joon Bum Kim, MD, PhD
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:JTCVS Open
Subjects:
aortic dissection
Ehlers-Danlos syndrome
genetic aortopathy
Loeys-Dietz syndrome
Marfan syndrome
thoracic aortic aneurysm
Online Access:http://www.sciencedirect.com/science/article/pii/S2666273623001626

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http://www.sciencedirect.com/science/article/pii/S2666273623001626

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