Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.
Gavin EssonIan LoganKatrina WoodAndrew C BrowningJohn Andrew SayerPublished in: Journal of rare diseases (Berlin, Germany) (2024)
The online version contains supplementary material available at 10.1007/s44162-024-00031-4.