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Gepubliceerd in: Journal of Autism and Developmental Disorders 10/2015

09-08-2015 | Brief Report

Brief Report: Systematic Review of Rett Syndrome in Males

Auteurs: Brian Reichow, Annie George-Puskar, Tara Lutz, Isaac C. Smith, Fred R. Volkmar

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2015

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Abstract

Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.
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Metagegevens
Titel
Brief Report: Systematic Review of Rett Syndrome in Males
Auteurs
Brian Reichow
Annie George-Puskar
Tara Lutz
Isaac C. Smith
Fred R. Volkmar
Publicatiedatum
09-08-2015
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 10/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-015-2519-1

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