A novel PKHD1 missense variant has been identified that disrupts splicing in a fetus diagnosed with Caroli disease. This discovery adds to the understanding of the genetic underpinnings of this rare condition.
novel pkhd1 missense variant disrupting splicing in a fetus with caroli disease
Original title: “A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.”