AI Article Synopsis
- - The patient exhibited signs suggesting they might have THES (Traits of an East Asian Syndrome).
- - Initial genetic tests, including Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), did not lead to a diagnosis.
- - Additional testing focused on RNA and protein analysis was required to accurately diagnose THES.
Article Abstract
The patient had clinical suspicion of THES. Complex genetic analyzes using WES, WGS were performed without success in the diagnosis. Further molecular analyzes using RNA and protein was necessary to reach the final correct THES diagnosis.
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| http://dx.doi.org/10.1111/cge.14630 | DOI Listing |
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