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- [50] De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumCLINICAL GENETICS, 2016, 90 (05) : 413 - 419Jansen, S.Kleefstra, T.Willemsen, M. H.de Vries, P.Pfundt, R.Hehir-Kwa, J. Y.Gilissen, C.Veltman, J. A.de Vries, B. B. A.Vissers, L. E. L. M.