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Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. "A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
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Lederer D, Grisart B, Digilio MC, et al. "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome." Am. J. Hum. Genet.. 2012;90(1):119-24. Abstract