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Pooled shRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome
Published on: March 2, 2018
Guidelines for reporting clinical features in cases with MECP2 mutations
A M Kerr1, Y Nomura, D Armstrong
1Department of Psychological Medicine, Gartnavel Royal Hospital, G12 0XH, Glasgow, UK.
Brain & Development
|May 30, 2001
Abstract:
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.
