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16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Proximal Deletion, Proximal Duplication,

All,

This large study describes the specific neurological features found in children and adults with 16p11.2 deletions and duplications—such as speech difficulties, muscle tone problems, seizures, head size differences, and tremors—helping families know what signs to watch for and discuss with their doctors.

Brain, Genetics, Phenotype,