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Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.

Lucas A Garza-GarzaPriscila Villarreal-MartinezRocio Villafuerte-de la CruzManuel Garza-León
Published in: Ophthalmic genetics (2023)
IRD severe phenotype associated with the variants c.944dup and c.1305C>G, which had previously only been associated with JCNL.
Keyphrases
  • early onset
  • optical coherence tomography
  • diabetic retinopathy
  • copy number
  • pain management
  • african american
  • gene expression
  • optic nerve