Scientific Article
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EHMT2 Variants Identified as a New Cause of Kleefstra-Like Neurodevelopmental Disorder
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Jul 12, 2026
An international study has identified de novo variants in EHMT2 as the cause of a new ultra-rare neurodevelopmental disorder resembling Kleefstra syndrome. The variants impair G9a methyltransferase activity, improving diagnosis for previously unexplained cases and opening new paths for research into disease mechanisms and future therapies.
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