Nephronophthisis (NPHP) is a genetically heterogeneous ciliopathy characterized by corticomedullary cyst formation and fibrosis leading to end-stage kidney disease, often associated with extra-renal findings. This study explores the genetic basis of NPHP in a South African family affected by its juvenile form.
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Hougenhouck-Tulleken et al. (2024) studied this question.
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