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Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.

Gavin EssonIan LoganKatrina WoodAndrew C BrowningJohn Andrew Sayer
Published in: Journal of rare diseases (Berlin, Germany) (2024)
The online version contains supplementary material available at 10.1007/s44162-024-00031-4.
Keyphrases
  • optical coherence tomography
  • diabetic retinopathy
  • social media
  • genome wide
  • copy number
  • health information
  • optic nerve
  • transcription factor