Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

AS Brooks, AM Bertoli-Avella, GM Burzynski, GJ Breedveld, J Osinga, LG Boven, JA Hurst, GMS Mancini, MH Lequin, RF de Coo, Ivana Matera, E de Graaff, C Meijers, PJ Willems, D Tibboel, BA Oostra, RMW Hofstra^*