The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Bitten Schönewolf-Greulich, Maria-Isabel Tejada, K Stephens, K Hadzsiev, J Gauthier, Karen Brøndum-Nielsen, R Pfundt, Kirstine Johanne Theresia Ravn, H Maortua, B Gener, C Martínez-Bouzas, A Piton, G Rouleau, J Clayton-Smith, T Kleefstra, Anne-Marie Bisgaard, Zeynep Tümer