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Review
. 2006 Aug;14(8):896-903.
doi: 10.1038/sj.ejhg.5201580.

Rett syndrome: new clinical and molecular insights

Sarah L Williamson  1 , John Christodoulou
Affiliations
Review

Rett syndrome: new clinical and molecular insights

Sarah L Williamson et al. Eur J Hum Genet. 2006 Aug.

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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