Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Bijlsma, E.K.; Collins, A.; Papa, F.T.; Tejada, M.I.; Wheeler, P.; Peeters, E.A.J.; ... ; Ruivenkamp, C.A.L. (2012)

Article / Letter to editor

• MECP2 duplication
• Xq28 duplication
• X-inactivation
• Mental retardation in females
• IRAK1

• All authors: Bijlsma, E.K.; Collins, A.; Papa, F.T.; Tejada, M.I.; Wheeler, P.; Peeters, E.A.J.; Gijsbers, A.C.J.; Kamp, J.M.V. de; Kriek, M.; Losekoot, M.; Broekma, A.J.; Crolla, J.A.; Pollazzon, M.; Mucciolo, M.; Katzaki, E.; Disciglio, V.; Ferreri, M.I.; Marozza, A.; Mencarelli, M.A.; Castagnini, C.; Dosa, L.; Ariani, F.; Mari, F.; Canitano, R.; Hayek, G.; Botella, M.P.; Gener, B.; Minguez, M.; Renieri, A.; Ruivenkamp, C.A.L.
• Date: 2012-07-31
• Journal: European Journal of Medical Genetics
• Volume: 55
• Issue: 6-7
• Pages: 404 - 413
• DOI: doi:10.1016/j.ejmg.2012.02.009