Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D. A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. European Journal of Human Genetics. 2012 Dec 12;21(8):887–90. doi: 10.1038/ejhg.2012.267.