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- W146097556 endingPage "1141" @default.
- W146097556 startingPage "1125" @default.
- W146097556 abstract "RS, the most common cause of profound cognitive impairment in girls and women, is composed of characteristic clinical features, including communication dysfunction, stereotypic movements, and pervasive growth failure. Neuropathologic findings indicate a failure of neuronal maturation with too small neurons and too few dendritic arbors and no evidence of a progressive neurodegenerative process. The combination of clinical and neuropathologic characteristics presents the profile of a neurodevelopmental disorder. Mutations in the gene MECP2, which encodes MeCP2, have been identified in 80% to 85% of girls and women with RS. Furthermore, the panorama of phenotypes with MECP2 mutations now extends far beyond RS to include normal girls and women, mild learning disability, autistic spectrum disorders, and X-linked mental retardation. These rapid advances in our understanding of RS over the past three decades have opened new avenues of study in developmental neurobiology." @default.
- W146097556 created "2016-06-24" @default.
- W146097556 creator A5076163771 @default.
- W146097556 date "2002-11-01" @default.
- W146097556 modified "2023-09-27" @default.
- W146097556 title "Rett syndrome" @default.
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