Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing

Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing

Abstract Thoracic aortic diseases (or aortopathies) result from complex interactions between genetic and hemodynamic factors. Often clinically silent, these diseases can lead to lethal complications such as aortic dissection or rupture. This study focused on a Brazilian cohort of 79 individuals with...

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Bibliographic Details
Main Authors: Juliana Rocha Ferreira, Julia Passarelli Pereira, Anna Paula Arpini Botelho, Daniele do Nascimento Aprijo, Marcelo Machado Melo, Helena Cramer Veiga Rey, Glauber Monteiro Dias
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Reports
Subjects:
Thoracic aortic disease
Aortic aneurysm and dissection
Marfan syndrome
Genetic variant pathogenicity
Next-generation sequencing
Online Access:https://doi.org/10.1038/s41598-024-78788-3
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https://doi.org/10.1038/s41598-024-78788-3

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