Cantú Syndrome Is Caused by Mutations in ABCC9

    Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, R Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Østergaard, Éva Morava, Konstantinos Tsiakas, Bertrand Isidor, M Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Wouter Steyaert, Bert B.A. de Vries, Alexander Hoischen
    Studysummary This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
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