Article
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Brain & development - 1 Jan 2011
Temudo Teresa, Santos Mónica, Ramos Elisabete, Dias Karin, Vieira José Pedro, Moreira Ana, Calado Eulália, Carrilho Inês, Oliveira Guiomar, Levy António, Barbot Clara, Fonseca Maria, Cabral Alexandra, Cabral Pedro, Monteiro José, Borges Luís, Gomes Roseli, Mira Graça, Pereira Susana Aires, Santos Manuela, Fernandes Anabela, Epplen Jorg T, Sequeiros Jorge, Maciel Patrícia
Abstract excerpt
BACKGROUND: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. PATIENTS AND METHODS: We analyzed 87...
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