Rett syndrome: new clinical and molecular insights.
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.
Williamson
Sarah L
SL
Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, Australia.
Christodoulou
John
J
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
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2