title: Rett syndrome: new clinical and molecular insights.
abstract: In this review, we give a clinical overview of Rett syndrome (RTT), and provide a framework for clinical and molecular approaches to the diagnosis of this severe neurodevelopmental disorder. We also discuss issues that need to be considered in the management of RTT patients, and raise some of the challenges associated with genetic counselling.
authors.affiliation: Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, Australia.
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Williamson
authors.forename: John
authors.initials: J
authors.lastname: Christodoulou
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000378:metabolism; D008954:Models, Biological; D008969:Molecular Sequence Data; D009154:Mutation; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D017386:Sequence Homology, Amino Acid
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2