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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. Telemedicin til monitorering af inflammatoriske tarmsygdomme og colon irritabile

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  2. Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn.

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  3. Behandling af tymom og thymuskarcinom

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  4. Kønsmodificerende kirurgi i Danmark

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  5. Osmotisk demyeliniseringssyndrom

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  1. Danish expanded newborn screening is a successful preventive public health programme

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  2. Phenotypic variability in Muenke syndrome-observations from five Danish families

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  3. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

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  4. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

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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