Confirmation of chromosomal microarray as a firsttier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Confirmation of chromosomal microarray as a firsttier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
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DOI：
10.1016/j.ejpn.2013.04.010
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发表时间：
2013-11-01
影响因子：
3.1
通讯作者：
Carey, John C.
中科院分区：
文献类型：
--
作者：
Battaglia, Agatino;Doccini, Viola;Carey, John C.
背景和目标：亚显微染色体重排是智力残疾和与畸形特征相关的自闭症谱系障碍最常见的可识别原因。染色体微阵列（CMA）可以检测拷贝数变异
Background and objectives: Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants