Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

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This study followed four Chinese children with 16p11.2 microdeletions from childhood to puberty, finding that their neurodevelopmental outcomes varied widely and that a specific gene variant (PRRT2) may help explain why some carriers are more affected than others—useful for families trying to understand why siblings or parents with the same deletion can look so different.