Kalinousky, Allison; Rapp, Tyler; Hijazi, Hadia; Johnson, Jennifer; Björnsson, Hans Tómas; Harris, Jacqueline R.
(2022-10-06)
Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representative ...