title: Guidelines for reporting clinical features in cases with MECP2 mutations.
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.
authors.affiliation: Department of Psychological Medicine, Gartnavel Royal Hospital, G12 0XH, Glasgow, UK.
authors.forename: A M
authors.initials: AM
authors.lastname: Kerr
authors.forename: Y
authors.initials: Y
authors.lastname: Nomura
authors.forename: D
authors.initials: D
authors.lastname: Armstrong
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: P V
authors.initials: PV
authors.lastname: Belichenko
authors.forename: S
authors.initials: S
authors.lastname: Budden
authors.forename: H
authors.initials: H
authors.lastname: Cass
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: A
authors.initials: A
authors.lastname: Clarke
authors.forename: C
authors.initials: C
authors.lastname: Ellaway
authors.forename: M
authors.initials: M
authors.lastname: d'Esposito
authors.forename: U
authors.initials: U
authors.lastname: Francke
authors.forename: M
authors.initials: M
authors.lastname: Hulten
authors.forename: P
authors.initials: P
authors.lastname: Julu
authors.forename: H
authors.initials: H
authors.lastname: Leonard
authors.forename: S
authors.initials: S
authors.lastname: Naidu
authors.forename: C
authors.initials: C
authors.lastname: Schanen
authors.forename: T
authors.initials: T
authors.lastname: Webb
authors.forename: I W
authors.initials: IW
authors.lastname: Engerstrom
authors.forename: Y
authors.initials: Y
authors.lastname: Yamashita
authors.forename: M
authors.initials: M
authors.lastname: Segawa
mesh_terms: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins