Article

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome

2024-10-05

Abstract excerpt

<h4>ABSTRACT</h4> Intellectual disability, affecting 2-3% of the general population, often co-occurs with neurodevelopmental disorders and is frequently caused by mutations that impair synaptic function. Kabuki syndrome (KS), a rare multisystem disorder associated with developmental delay and intellectual disability, results from mutations in either KMT2D (KS1) or KDM6A (KS2), encoding a histone methyltransfera...

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Literature Corpus work: fc1637db-2557-56a5-aab3-ab8e7cdeb0ce
DOI: 10.1101/2024.10.04.616738

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