Article

Metabolomic and transcriptomic signature in Kabuki syndrome

2025-04-30

Abstract excerpt

<h4>ABSTRACT</h4> Kabuki Syndrome (KS) is a rare multisystem disorder with a variable clinical phenotype. The majority of KS cases are caused by dominant loss-of-function mutations in two genes, KMT2D (lysine methyltransferase 2D, KS1) and KDM6A (lysine demethylase 6A, KS2). Both KMT2D and KDM6A play a critical role in chromatin accessibility, which is essential for developmental processes and differentiation...

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Literature Corpus work: bc30bc9c-6cf7-5677-a411-a2c65f656f92
DOI: 10.1101/2025.04.30.25326738

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