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Rett syndrome: a complex disorder with simple roots

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NATURE REVIEWS GENETICS
卷 16, 期 5, 页码 261-274

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NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3897

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  1. Wellcome Trust [091580, 092076]
  2. Rett Syndrome Research Trust

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Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the view that MeCP2 is a multifunctional chromatin protein that integrates diverse aspects of neuronal biology. More recently, studies have focused on specific RTT-associated mutations within the protein. This work has yielded molecular insights into the critical functions of MeCP2 that promise to simplify our understanding of RTT pathology.

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