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The neurodevelopmental spectrum seen with CHD2 variants 被引量:1
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作者 Alice G Willison rhys h thomas 《Pediatric Investigation》 CAS CSCD 2022年第2期147-148,共2页
There are many self evident truths when it comes to genetic testing in epilepsies:classifying epilepsy and idenifying the co-morbidities helps you pick the right panel;sending the test increases your chance of making ... There are many self evident truths when it comes to genetic testing in epilepsies:classifying epilepsy and idenifying the co-morbidities helps you pick the right panel;sending the test increases your chance of making that diagnosis;increased panel testing broadens the phenotype.The series of children with chromodomain helicase DNA-binding protein 2(CHD2)variants reported by Feng et al.1 are notable for a number of important reasons,including confirmation of another CHD2 family. 展开更多
关键词 EPILEPSY DIAGNOSIS TESTING
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