HIGHLIGHTS
- What: The aim of this study was to investigate the diagnostic yield and clinical utility of WES in a cohort of Taiwanese pediatric patients with suspected CM or MD. The authors aimed to explore the potential of WES to refine clinical diagnoses, guide management decisions, and inform genetic counseling for affected families. This approach was aimed at streamlining the diagnostic process and minimizing invasive procedures for the patients. This study shows the use of WES in diagnosing genetically heterogeneous conditions such as CM by allowing the discovery of causal variants across many genes .
- Who: . et . . .
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