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神经发育障碍与基因检测:当前方法与未来进展

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

机构信息

Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.

出版信息

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950.

Abstract

Genetic testing for intellectual disability, global developmental delay and other neurodevelopmental disorders has advanced considerably in the last five to ten years and can be an important diagnostic tool for clinicians. This article provides a clinical and ethical framework for understanding these advances, future directions and the current limitations of these approaches.

摘要

在过去的五到十年中,针对智力障碍、全球发育迟缓及其他神经发育障碍的基因检测取得了重大进展,可为临床医生提供重要的诊断工具。本文为理解这些进展、未来方向以及这些方法目前的局限性提供了临床和伦理框架。

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