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Researchers identify a genetic cause of intellectual disability affecting tens of thousands - EurekAlert


Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine, was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK. The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.

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