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

Marcella Zollino, Marco Moscarda, Giovanni Neri, Wm Nillesen, Hg Yntema, Ne Verbeek, Lc Wilson, F Cowan, M Schepens, A Raas Rothschild, O Gafni Weinstein, R Vijzelaar, M Nelen, H Bokhoven, J Giltay, T. Kleefstra

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Medicine & Life Sciences