Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
Brain and Development2010Vol. 33(1), pp. 69–76
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Teresa Temudo, Mònica Santos, Elisabete Ramos, Karin Ziliotto Dias, José Pedro Vieira, Ana Moreira, Eulália Calado, Inês Carrilho, Guiomar Oliveira, A Levy, Clara Barbot, Maria José Fonseca, Alexandra Cabral, Pedro Cabral, José Paulo Monteiro, Luís Borges, Roseli Gomes, Graça Mira, Susana Aires Pereira, Miguel M. Santos, Anabela Silva‐Fernandes, Jörg T. Epplen, Jorge Sequeiros, Patrı́cia Maciel
Abstract
A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.
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