A case report highlights biallelic PKD1 mutations leading to neonatal death in a preterm infant, emphasizing the severe implications of very early-onset autosomal dominant polycystic kidney disease (ADPKD). This study contributes to the understanding of genetic factors in neonatal outcomes.
biallelic pkd1 mutations causing neonatal death in an extremely preterm infant a korean case report of very early onset adpkd
Original title: “Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD.”