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Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23 .

Pankaja DhobleThales A C de GuimarãesAndrew R WebsterMichel Michaelides
Published in: Ophthalmic genetics (2024)
can present with a mild phenotype including sector RP. This can aid in better genetic counselling and in prognostication.
Keyphrases
  • copy number
  • genome wide
  • hiv testing
  • dna methylation
  • men who have sex with men