Rett syndrome: new clinical and molecular insights

被引：84

作者：

Williamson, Sarah L.

Christodoulou, John

机构：

[1] Childrens Hosp, Western Sydney Genet Program, Westmead, NSW 2145, Australia

[2] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2006年 / 14卷 / 08期

关键词：

Rett syndrome; mental retardation; methyl CpG-binding protein 2; MECP2; transcription factor; methylation;

D O I：

10.1038/sj.ejhg.5201580

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In this review, we give a clinical overview of Rett syndrome (RTT), and provide a framework for clinical and molecular approaches to the diagnosis of this severe neurodevelopmental disorder. We also discuss issues that need to be considered in the management of RTT patients, and raise some of the challenges associated with genetic counselling.

引用

收藏

页码：896 / 903

页数：8

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