Article
[Rett syndrome].
Nederlands tijdschrift voor geneeskunde - 1 Jan 2014
van Urk Paul R, van den Berg Mariëll P, van Royen Barend J, Smeets Eric E J, Curfs Leopold M G
Abstract excerpt
BACKGROUND: Rett syndrome is caused by mutations in the X-linked MECP2 gene, encoding MeCP2 protein. This protein is essential for the transcription and repression of other genes and is important for the development and plasticity of the central nervous system. Children with Rett syndrome initially develop normally but after a few months their development deteriorates. CASE DESCRIPTION: The case describes a girl...
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