Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome

OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 47(2009), 8 vom: 02. Aug., Seite 565-9
1. Verfasser: Zhu, Xing-wang (VerfasserIn)
Weitere Verfasser: Pan, Hong, Li, Mei-rong, Bao, Xin-hua, Zhang, Jing-jing, Wu, Xi-ru
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2009
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Methyl-CpG-Binding Protein 2