Rett syndrome: Clinical update and review of recent genetic advances

被引：24

作者：

Ellaway, C

Christodoulou, J

机构：

[1] Royal Alexandra Hosp Children, Western Sydney Genet Program, Westmead, NSW 2124, Australia

[2] Univ Sydney, Dept Pediat & Child Hlth, Sydney, NSW 2006, Australia

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 1999年 / 35卷 / 05期

关键词：

chromosome; Rett syndrome;

D O I：

10.1046/j.1440-1754.1999.355403.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Rett syndrome, a severe neurodevelopmental disorder occurring almost exclusively in females, is thought to be the second most common cause of profound mental retardation in females after Down syndrome. Recent genetic advances suggest the gene for Rett syndrome to be located on the distal arm of the X chromosome, Xq28. This manuscript reviews the clinical phenotype, natural history and current genetic understanding of the disorder.

引用

页码：419 / 426

页数：8

共 107 条

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