A rare PKHD1 frameshift variant has been identified in a prenatally diagnosed case of autosomal recessive polycystic kidney disease (ARPKD) from a consanguineous family in Jordan. This discovery adds to the understanding of genetic factors contributing to ARPKD.
rare pkhd1 frameshift variant identified in a prenatally diagnosed arpkd case from a consanguineous jordanian family
Original title: “A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family.”