Scientists hunt for hidden genes behind rare birth defect

This study looked at the DNA of 73 children with a rare birth defect called isolated congenital diaphragmatic hernia (CDH), where a hole in the diaphragm allows organs to move into the chest. Researchers wanted to find new genetic changes that might cause the condition. They used advanced gene sequencing to search for mutations in families with one affected child. The goal was to identify genes responsible for CDH and understand how often these genes appear in other patients.