Hilmar Orn Gunnlaugsson

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 the...