Publication
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G. Jansen, Manvendra K. Singh, Jonathan A. Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P. M. de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner, Antonio Pérez Aytés, Faustino Marin, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind, George W. Padberg, Hans van Bokhoven
Nature Communications, June 2015, Springer Science + Business Media
DOI: 10.1038/ncomms8199