Publication
TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
MECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability without classic features of Rett syndrome
B. Schönewolf-Greulich, M.-I. Tejada, K. Stephens, K. Hadzsiev, J. Gauthier, K. Brøndum-Nielsen, R. Pfundt, K. Ravn, H. Maortua, B. Gener, C. Martínez-Bouzas, A. Piton, G. Rouleau, J. Clayton-Smith, T. Kleefstra, A.-M. Bisgaard, Z. Tümer
Clinical Genetics, April 2016, Wiley
DOI: 10.1111/cge.12769