AI Article Synopsis
- Mutations in the ANK2 gene linked to autism have been identified since 2012, but detailed clinical descriptions were lacking until now.
- This Research Letter presents the first comprehensive characterization of a patient with autism caused by a novel mutation in the ANK2 gene.
- The findings aim to enhance understanding of ANK2-related autism and improve its diagnosis in the future.*
Article Abstract
Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. In this Research Letter, for the first time, we describe the detailed characteristics of a patient with autism caused by a new mutation in this gene. Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating its further diagnosis.
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| http://dx.doi.org/10.1111/cge.14347 | DOI Listing |
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