In this review published in European Journal of Human Genetics (Vol. 14, pp. 896-903), Williamson and Christodoulou 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. They also discuss issues that need to be considered in the management of RTT patients, and raise some of the challenges associated with genetic counselling.
Professor J Christodoulou, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, 2145, NSW, Australia.
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(C) European Journal of Human Genetics.
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