Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report
{{output}}
Pathogenic variants in GATA4, a transcription factor, are predominantly associated with congenital heart defects and gonadal abnormalities. We describe a case of a maternally inherited GATA4 pathogenic variant (c.474C > G p.[Tyr158Ter]) in a 21-week gestation ... ...
