Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

1 Citationer (Scopus)


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.

Bidragets oversatte titelClinical molecular genetics diagnostics of Rett syndrome in Denmark
TidsskriftUgeskrift for Laeger
Udgave nummer27
Sider (fra-til)V12140731
StatusUdgivet - 29 jun. 2015


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