Rett syndrome: new clinical and molecular insights

  title={Rett syndrome: new clinical and molecular insights},
  author={Sarah L. Williamson and John Christodoulou},
  journal={European Journal of Human Genetics},
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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