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Author information:
Department of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.

We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. Rett syndrome should be considered in both males and females.

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