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RESEARCH: “An Unexpected Adverse Event during Colonoscopy Screening: Bochdalek Hernia.”

Bochdalek hernia (BH) is defined as herniated abdominal contents appearing throughout the posterolateral segment of the diaphragm. It is usually observed during the prenatal or newborn period. Here, we report …

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RESEARCH: “Scimitar syndrome associated with aberrant right subclavian artery, diaphragmatic hernia, and urinary anomalies – case report and review of the literature “

Scimitar syndrome is a form of a partially or totally right pulmonary venous return to the inferior vena cava, which may associate variably right lung hypoplasia, right pulmonary artery hypoplasia, …

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RESEARCH: “De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders”

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants …