雷特综合征：新的临床与分子见解
Rett syndrome: new clinical and molecular insights.
作者信息
Williamson Sarah L, Christodoulou John
机构信息
Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, Australia.
出版信息
Eur J Hum Genet. 2006 Aug;14(8):896-903. doi: 10.1038/sj.ejhg.5201580.
PMID:16865103
Abstract
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.
摘要
在本综述中，我们对雷特综合征（RTT）进行了临床概述，并为该严重神经发育障碍的临床诊断和分子诊断方法提供了一个框架。我们还讨论了雷特综合征患者管理中需要考虑的问题，并提出了一些与遗传咨询相关的挑战。
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