Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis

Ophthalmic Genet. 2024 Oct;45(5):542-545. doi: 10.1080/13816810.2024.2352377. Epub 2024 May 20.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Computational Biology*
  • Eye Proteins / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree*
  • Phenotype*
  • Retinitis Pigmentosa* / diagnosis
  • Retinitis Pigmentosa* / genetics

Substances

  • Eye Proteins