Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. door Twigg, S, Ousager, L, Miller, K, Zhou, Y, Elalaoui, S, Sefiani, A, Bak, G, Hove, H, Hansen, L, Fagerberg, C, Tajir, M, Wilkie, A

De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia door Haijes, H, Koster, M, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G, Lehman, A, Van De Laar, I, Tesselaar, C, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A, Kini, U, Vos, H, Van Es, R, Van Schaik, R, Van Essen, T, Kibaek, M, Taylor, J, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D, Van Gassen, K, Pfundt, R, Falk, M, McCormick, E, Timmers, H, Van Hasselt, P