GeneticsDisease Models & MechanismsPeer-reviewed
A patient derived missense mouse model of Kabuki syndrome 1
Sara Tholl Halldorsdottir, Meghna Vinod, Hilmar Orn Gunnlaugsson…·Hans Tomas Bjornsson
The paper introduces a missense mouse model of Kabuki syndrome with intact KMT2D function, showing similar phenotypes to loss-of-function models but without altered adult neurogenesis and with novel kidney agenesis.
DOI 10.1242/dmm.052775