A case report posted on Molecular Cytogenetics section of BioMed Central has reported the first description on an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.  The case report has open access status and was written by Eva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, Lorenz Winter, Barbara Zoll, Peter Burfeind, Knut Brockmann and Silke Pauli.

View the article on Biomedcentral.com