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Keywords: nephronophthisis
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Biochem Soc Trans (2021) 49 (3): 1205–1220.
Published: 07 May 2021
... including the kidney. Recognised disease phenotypes associated with primary ciliopathies that have a strong renal component include autosomal dominant and recessive polycystic kidney disease and their various mimics, including atypical polycystic kidney disease and nephronophthisis. The molecular...