Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder

Abstract Background Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the genetic basis of essential ASD using whole exome seq...

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Bibliographic Details
Main Authors: Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli, Chiara Pessina, Tommaso Mazza, Matteo Ferri, Paolo Piccinelli, Chiara Luoni, Cristiano Termine, Mauro Fasano, Rosario Casalone
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Genomics
Subjects:
Essential autistic spectrum disorder
ASD
Array-comparative genomic hybridization (array-CGH)
Copy number variants (CNVs)
Online Access:https://doi.org/10.1186/s12864-024-11077-5

Internet

https://doi.org/10.1186/s12864-024-11077-5

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