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Ignatia B Van den Veyver
Public Documents
1
Compound heterozygosity of a de novo submicroscopic deletion and an inherited framesh...
Takuya Sakyu
and 7 more
September 14, 2022
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.