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- W4240016232 abstract "Rett syndrome is a neurological disease of early postnatal brain growth found almost exclusively in girls. Typically girls with Rett syndrome show developmental regression including loss of communication and motor skills, stereotypic hand movements and a deceleration of head growth. The defective gene, methyl CpG binding protein 2 (Rett syndrome) (MECP2) is normally involved in the transcription silencing of genes (turning genes ‘off’): in Rett syndrome, the MECP2 protein does not work properly in approximately half of the patient's cells (heterozygous), leading to the aberrant expression of a cascade of other genes, normally regulated by MECP2." @default.
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- W4240016232 date "2006-01-27" @default.
- W4240016232 modified "2023-09-25" @default.
- W4240016232 title "Rett Syndrome" @default.
- W4240016232 doi "https://doi.org/10.1038/npg.els.0005687" @default.
- W4240016232 hasPublicationYear "2006" @default.
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