10Oct 2022
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects

Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects

This study aimed to identify pathogenic and likely pathogenic CNVs in South African patients with CHD. This study shows that chromosomal microarray is an effective technique for identifying CNVs in African patients diagnosed with CHD and has demonstrated results similar to previous CHD genetic studies in Europeans. Novel potential CHD genes were also identified, indicating the value of genetic studies of CHD in ancestrally diverse populations.

  • #cardiology

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