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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Proximal Deletion, Proximal Duplication,

All,

This research study found that problems with tiny hair-like structures in cells called cilia may play a role in some of the brain, head size, and autism-related features seen in children with the proximal 16p11.2 deletion or duplication, offering new clues about the biology behind these conditions.

Brain, Pathophysiology,