title: Gene symbol: MECP2. Disease: Rett syndrome (atypical).
authors.affiliation: Emory University School of Medicine, Department of Human Genetics, Atlanta, GA 30322, USA. openaga@genetics.emory.edu
authors.forename: O
authors.initials: O
authors.lastname: Penagarikano
authors.forename: Cristina
authors.initials: C
authors.lastname: Martinez-Bouzas
authors.forename: Mónica
authors.initials: M
authors.lastname: Mínguez
authors.forename: Arantza
authors.initials: A
authors.lastname: Sanz-Parra
authors.forename: Eva
authors.initials: E
authors.lastname: García-Alegría
authors.forename: Elena
authors.initials: E
authors.lastname: Beristain
authors.forename: M Isabel
authors.initials: MI
authors.lastname: Tejada
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007859:Learning Disabilities / Q000209:etiology; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D018389:Codon, Nonsense; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2