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Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

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@article{6499719f6ac940ea807ce5365ea551a6,
title = "Klinisk og molekyl{\ae}rgenetisk diagnostik af Retts syndrom i Danmark",
abstract = "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.",
author = "Bitten Sch{\"o}newolf-Greulich and Morten Dun{\o} and Kirstine Ravn and Karen Br{\o}ndum-Nielsen and Anne-Marie Bisgaard",
year = "2015",
month = "6",
day = "29",
language = "Dansk",
volume = "177",
pages = "V12140731",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "27",

}

RIS

TY - JOUR

T1 - Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

AU - Schönewolf-Greulich, Bitten

AU - Dunø, Morten

AU - Ravn, Kirstine

AU - Brøndum-Nielsen, Karen

AU - Bisgaard, Anne-Marie

PY - 2015/6/29

Y1 - 2015/6/29

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

VL - 177

SP - V12140731

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 27

ER -

ID: 45844774