Ullmann, R. Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;
Rump.pdf (Publisher version), 764KB
Rump, A., Hildebrand, L., Tzschach, A., Ullmann, R., Schrock, E., & Mitter, D. (2013). 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: EJHG; the official journal of the European Society of Human Genetics, 21(8), 887-890. doi:10.1038/ejhg.2012.267.