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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

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  1. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

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  2. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

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  3. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

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The neurodevelopmental disorder Rett syndrome was first described in 1966 by Andreas Rett, who described girls with loss of speech and hand use displaying characteristic hand stereotypies. Since then, the disease has been linked to mutations in the gene MECP2. However, the basis of the diagnosis is still clinical as defined by the latest clinical criteria as proposed by Neul and colleagues in 2010. This article presents a short clinical and molecular overview of the latest in Rett syndrome with emphasis on the Danish patients, headlines for making the diagnosis, differential diagnoses and molecular diagnostic possibilities.

Translated title of the contributionClinical molecular genetics diagnostics of Rett syndrome in Denmark
Original languageDanish
JournalUgeskrift for Laeger
Volume177
Issue number27
Pages (from-to)V12140731
ISSN0041-5782
Publication statusPublished - 29 Jun 2015

ID: 45844774