Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Amelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M Drautz, Jill A Rosenfeld, Lisa G Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J Harris, James F Gusella, Eric C Liao, Cynthia C Morton

    Research output: Contribution to journal › Article › peer-review

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    Biochemistry, Genetics and Molecular Biology

    Neuroscience