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Article

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

BMC genomics - 10 Dec 2024

Granata Paola, Zito Alessandra, Cocciadiferro Dario, Novelli Antonio, Pessina Chiara, Mazza Tommaso, Ferri Matteo, Piccinelli Paolo, Luoni Chiara, Termine Cristiano, Fasano Mauro, Casalone Rosario

Abstract excerpt

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 sequencing (WES) and array-comparative genomic hybridization (array-CGH). RESULTS: In a cohort of 122 children with essential...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39654053
DOI: 10.1186/s12864-024-11077-5
PMCID: PMC11629504

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