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09-08-2015 | Brief Report | Uitgave 10/2015

Brief Report: Systematic Review of Rett Syndrome in Males

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 10/2015

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

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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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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
DOI: https://doi.org/10.1007/s10803-015-2519-1
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 10/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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