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The role of this gene in the pathogenesis of this enigmatic disorder is being extensively investigated in animal models. Rett syndrome is associated with a complex phenotype that is unique in every aspect of its presentation, clinical physiology, chemistry, and pathology. Years of concentrated observations have defined the clinical presentation of classic Rett syndrome and its variants and related features (eg, neurophysiologic, radiologic, chemical, metabolic, and anatomic). This article reviews the neuropathology of Rett syndrome, which involves individual neurons, perhaps selected neurons, of decreased size, dendritic branching, and numbers of spines. This article also summarizes the studies in the human and mouse brain with Rett syndrome that are beginning to reveal the disorder's pathoetiology. 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