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 . This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease-causing deletion.
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| http://dx.doi.org/10.1002/ccr3.6692 | DOI Listing |
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