Article
Guidelines for reporting clinical features in cases with MECP2 mutations.
Brain & development - 1 Jul 2001
Kerr A M, Nomura Y, Armstrong D, Anvret M, Belichenko P V, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom I W, Yamashita Y, Segawa M
Abstract excerpt
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...
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