Guidelines for reporting clinical features in cases with MECP2 mutations

Alison M. Kerr, Yoshiko Nomura, Dawna Armstrong, Maria Anvret, Pavel V. Belichenko, Sarojini Budden, Hilary Cass, John Christodoulou, Angus Clarke, Carolyn Ellaway, Maurizio D'Esposito, Uta Francke, Maj Hulten, Peter Julu, Helen Leonard, Sakkubai Naidu, Carolyn Schanen, Tessa Webb, Ingegerd Witt Engerstrom, Yushiro YamashitaMasaya Segawa

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)208-211
Number of pages4
JournalBrain and Development
Volume23
Issue number4
DOIs
StatePublished - Jul 2001

Keywords

  • Brain development
  • MECP2 mutations
  • Rett Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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