发育迟缓与智力障碍的临床处理方法。
A clinical approach to developmental delay and intellectual disability.
机构信息
Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK
Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.
出版信息
Clin Med (Lond). 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558.
Abstract
Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability.
摘要
全面发育迟缓伴智力障碍在表型和基因型上具有异质性，许多情况下无法明确诊断。本文概述了一种全面发育迟缓伴智力障碍的系统诊疗方法。
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本文引用的文献
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Prevalence and architecture of de novo mutations in developmental disorders.发育障碍中新生突变的患病率及结构
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Genetic studies in intellectual disability and related disorders.智力障碍和相关障碍的遗传学研究。
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Comprehensive evaluation of the child with intellectual disability or global developmental delays.对智力残疾或全面发育迟缓儿童的综合评估。
Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839.
4
Genetics and the investigation of developmental delay/intellectual disability.遗传学与发育迟缓/智力障碍的研究。
Arch Dis Child. 2014 Apr;99(4):386-9. doi: 10.1136/archdischild-2013-304063. Epub 2013 Dec 16.
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