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Ocular manifestations of the genetic renal tubulopathies.

GeFei YangHeather MackPhilip HarrakaDeb ColvilleJudy Savige
Published in: Ophthalmic genetics (2023)
Ocular abnormalities are uncommon in the genetic tubulopathies but may be helpful in recognizing the underlying genetic disease. The retinal expression and mouse phenotype data suggest that further ocular associations may become apparent with additional reports. Early identification may be necessary to monitor and treat visual complications.
Keyphrases
  • genome wide
  • optic nerve
  • poor prognosis
  • emergency department
  • magnetic resonance imaging
  • dna methylation
  • computed tomography
  • machine learning
  • binding protein
  • bioinformatics analysis