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Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.

Proximal Deletion, Proximal Duplication,

All,

This review article explains how specific genes within the 16p11.2 chromosomal region—including MVP and MAPK3—contribute to conditions like autism, ADHD, intellectual disability, and epilepsy in people with deletions or duplications, and how that understanding may help researchers develop new treatments for families affected by 16p11.2 syndromes.

Genetics, Pathophysiology,