Guidelines| Volume 23, ISSUE 4, P208-211, July 2001

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Guidelines for reporting clinical features in cases with MECP2 mutations


      An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.


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