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Researchers Solve Medical Mystery of Neurological Symptoms in Kids

Researchers at WashU Medicine collaborated with an international team of doctors and scientists to identify the cause of a rare disorder involving intellectual disability and brain malformations. The team found a link between the child's neurological symptoms and a genetic change that affects how proteins are properly folded within cells, providing the parents with a molecular diagnosis and identifying an entirely new type of genetic disorder. The findings are published in Science.

October 31, 2024


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Angell Street Psychiatry
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