학술논문
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
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Abstract
Background The recurrent ~ 600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and behavioural