Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

Pediatric Neurology(2017)

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摘要
These results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with autism spectrum disorder with additional clinical features would benefit the most from diagnostic exome sequencing.
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关键词
diagnostic exome sequencing,autism spectrum disorder,characterized genetic etiology,candidate genetic etiology
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