Open access
Sep 2026
A patient-derived missense mouse model of Kabuki syndrome 1.
Kabuki syndrome type 1 (KS1) 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 KS1 exhibits key phenotypic features, and therapeutic trials in this mouse model sugg...
S. Halldorsdottir, Meghna Vinod, H. Gunnlaugsson et al.
· Disease Models & Mechanisms · 0 citations