%0 Case Reports
%T Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.
%A Sakyu T
%A Stover SR
%A Wang Y
%A Ward P
%A Gandhi M
%A Braun MC
%A Van den Veyver IB
%A Bi W
%J Clin Case Rep
%V 11
%N 2
%D Feb 2023
%M 36846174
暂无%R 10.1002/ccr3.6692
%X We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease-causing PKHD1 deletion.