Article
Rett syndrome phenotype following infantile acute encephalopathy.
Journal of child neurology - 1 Sept 2002
Fiumara Agata, Polizzi Agata, Mazzei Rosalucia, Conforti Luisa, Magariello Angela, Sorge Giovanni, Pavone Lorenzo
Abstract excerpt
Rett syndrome is a progressive neurodevelopmental disorder with a well-defined clinical spectrum and course. Recently, mutations in the gene encoding X-linked methyl-CpG binding protein 2 (MECP2) have been identified as the cause of Rett syndrome. Along with the classic form, variant forms of Rett syndrome and Rett syndrome phenotypes are also recognized. We report on a girl who, at age 2 months, developed an...
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