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  • Title: [Clinical and molecular genetic findings in four girls with Rett syndrome].
    Author: Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V.
    Journal: Klin Padiatr; 2002; 214(5):291-4. PubMed ID: 12235545.
    Abstract:
    We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000 girls. Recently, the MeCP2-gene encoding the methyl-CpG-binding protein 2 has been shown to be mutated in 80 percent of girls with Rett Syndrome, studied so far. In our patients with Rett syndrome two common mutations of the MeCP2-gene, R168X (n=2) and T158M were found. In the 4th patient a novel "missense" mutation R294G was identified.
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