A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Por Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian, Béjot, Yannick, Frébourg, Thierry, Giroud, Maurice, Campion, Dominique, Hannequin, Didier
Publicado em 2014