Article

A patient derived missense mouse model of Kabuki syndrome 1

2025-11-14

Abstract excerpt

Kabuki syndrome (KS) is a rare cause of intellectual disability resulting from heterozygous pathogenic variants in the gene encoding the histone methyltransferase KMT2D. A previously established loss-of-function mouse model of KS exhibits key phenotypic features, and therapeutic trials in this mouse model suggest postnatal malleability of neurological symptoms. However, 15-30% of individuals with KS, carry missens...

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Identifiers and source

Literature Corpus work: 9b6f0010-dc06-5a44-8bc2-00c143ffda45
DOI: 10.1101/2025.11.13.688040

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