医学
脑瘫
外显子组测序
儿科
基因检测
人口
自闭症
外显子组
遗传学
内科学
物理医学与康复
精神科
突变
生物
环境卫生
基因
作者
Pedro J. Gonzalez-Mantilla,Yirui Hu,Scott M. Myers,Brenda Finucane,David H. Ledbetter,Christa Lese Martin,Andrés Moreno-De-Luca
出处
期刊:JAMA Pediatrics
[American Medical Association]
日期:2023-03-06
卷期号:177 (5): 472-472
被引量:80
标识
DOI:10.1001/jamapediatrics.2023.0008
摘要
In this systematic review and meta-analysis, the genetic diagnostic yield in cerebral palsy was similar to that of other neurodevelopmental disorders for which exome sequencing is recommended as standard of care. Data from this meta-analysis provide evidence to support the inclusion of cerebral palsy in the current recommendation of exome sequencing in the diagnostic evaluation of individuals with neurodevelopmental disorders.
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