Genetic analysis links neurodevelopmental disorder with dystonia and chorea to splicing regulator variants, suggesting new treatment pathways.
We conclude that the patients' phenotypes are caused by a previously undiagnosed SRRM4-related disorder, offering a basis for improved understanding of mechanistic convergence in genetic movement disorders and potential therapeutic targeting of the misregulated splicing events.
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Harrer et al. (2026) studied this question.
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