具有致病性拷贝数变异的神经学特征
Neurologic Features with Pathogenic Copy Number Variants.
作者信息
Coryell Jason
机构信息
Departments of Pediatrics and Neurology, Oregon Health & Sciences University, Portland, OR.
出版信息
Pediatr Neurol Briefs. 2020 Dec 18;34:20. doi: 10.15844/pedneurbriefs-34-20.
Abstract
Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].
摘要
悉尼大学韦斯特米德儿童医院的研究人员对555名怀疑存在遗传病因、具有不同神经表型的儿童进行了回顾性研究（2006 - 2012年），以分析阵列比较基因组杂交（aCGH）的诊断效率[1]。
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