Loss Of Stability Of The AHI1-HAP1 Complex An Issue In Joubert Syndrome

Joubert syndrome is an inherited brain disorder characterized by loss of muscle tone, developmental delay, and mental retardation. New research has provided insight into how mutations in one of the many genes linked to Joubert syndrome, AHI1, might cause disease. It is hoped that this might provide new targets for the development of novel therapeutic approaches.

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