Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3

The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract. The study also highlights the subtle variations in phenotypic expression in a cohort of patients with the same mutation in NPHP3.