2024
DOI: 10.3389/fphar.2024.1407865
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Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes

Roberta Leone,
Cecilia Zuglian,
Riccardo Brambilla
et al.

Abstract: Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions that affect >4% of children worldwide, share common features and present a variegated genetic origin. They include clinically defined diseases, such as autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), motor disorders such as Tics and Tourette’s syndromes, but also much more heterogeneous conditions like intellectual disability (ID) and epilepsy. Schizophrenia (SCZ) has also recently b… Show more

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