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Rett syndrome: new clinical and molecular insights
Sarah L Williamson1, John Christodoulou
1Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, Australia.
European Journal of Human Genetics : EJHG
|July 26, 2006
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.
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