A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
Meghan J M DeBenedictisYosef GindzinEnrico GlaabBela Anand-AptePublished in: Ophthalmic genetics (2020)
It is important to consider mutations in TIMP3 in atypical cases of Retinitis Pigmentosa particularly in the absence of known variants.
Keyphrases