Article

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

2020-06-16

Abstract excerpt

<title>Abstract</title> <p>Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also present in adulthood with milder phenotypes. In this study, we describe a 24-year-old woman with atypical polycystic kidney, no family histo...

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Literature Corpus work: f9f3b237-5f35-58f6-85a0-d8b71911b5f9
DOI: 10.21203/rs.3.rs-33929/v1

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