Open access
Aug 2026
Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS
Results indicate that reduced dosage of Kmt2d perturbs the developmental landscape of the Tbx1 heterozygote, eliciting phenotypes that are shared between 22q11.2DS and Kabuki syndrome, suggesting that Tbx1 and Kmt2d developmentally converge upon essential biological processes.
Daniella Miller, Kevyn Jackson, T. C. Cox et al.
· JCI Insight · 0 citations