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Annotation: Rett syndrome: recent progress and implications for research and clinical practice

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Background: Rett syndrome was first described 40 years ago as a profoundly disabling condition in girls. Method: Over the last 20 years' national surveys, neuropathological and neurophysiological research have steadily improved understanding of its character and natural history. Results: In the last two years identification of the causative mutations in the gene methyl CpG binding protein 2 (Xq28) has led to a sudden expansion in knowledge about the underlying developmental disorder, with important implications for clinical practice and new opportunities to develop more effective intervention. Conclusions: It is now clear that the disorder occurs in males and females and that there is a wide range in severity.
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Keywords: MECP2; MeCP2; Rett disorder; Rett syndrome

Document Type: Research Article

Affiliations: Glasgow University and the Royal Hospital for Sick Children, UK

Publication date: March 1, 2002

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