CareLit · DOI-Nachweis · Aktuelle Neurologie
Phenotypic spectrum of ARXopathies and functional analysis of a truncated human ARX gene product in neural cell cultures
DOI 10.1055/s-2007-987779
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Autor:innenC Gross, G Uyanik, B Zoll, B Miterski, W Thomas, J Schefels, U Bogdahn, L Aigner, U Hehr, J Winkler
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Aim: Hemizygous mutations in the aristaless-related homeobox gene (ARX; Xp22.13), the human orthologue of the Drosophila gene aristaless, cause a wide spectrum of clinical phenotypes. Affected males present with mental retardation, which might be associated with dystonia, myoclonus epilepsy and in the most severe form of X-linked mental retardation with ambiguous genitalia (XLAG) with structural brain abnormalities…
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Zitierempfehlung
C Gross, G Uyanik, B Zoll, B Miterski, W Thomas, J Schefels, U Bogdahn, L Aigner, U Hehr, J Winkler (2007) Phenotypic spectrum of ARXopathies and functional analysis of a truncated human ARX gene product in neural cell cultures. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987779
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