Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Willy M. Nillesen, Helger G. Yntema, Marco Moscarda, Nienke E. Verbeek, Louise C. Wilson, Frances Cowan, Marga Schepens, Annick Raas-Rothschild, Orly Gafni-Weinstein, Marcella Zollino, Raymon Vijzelaar, Giovanni Neri, Marcel Nelen, Hans Van Bokhoven, Jacques Giltay, Tjitske Kleefstra*

*Corresponding author for this work

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Medicine & Life Sciences