Autism spectrum disorder and 3p24.3p23 triplication: a case report

Autism spectrum disorder and 3p24.3p23 triplication: a case report

Abstract Background The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case...

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Main Authors: Martina Siracusano, Maria Stellato, Elisa Carloni, Giulia Miccolo, Assia Riccioni, Romina Moavero, Alessandra Voci, Massimiliano Valeriani, Cinzia Galasso, Adele Pompili, Antonio Pizzuti, Laura Bernardini, Marina Goldoni, Luigi Mazzone
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Journal of Medical Case Reports
Subjects:
3p triplication
3p24.3p23
Autism
Neurodevelopmental disorder
Case report
Online Access:https://doi.org/10.1186/s13256-025-05124-2
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