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Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

Lilián Galbis-MartínezFiona Blanco-KellyGema García-GarcíaAlmudena Ávila-FernándezTeresa JaijoCarla Fuster-GarcíaIrene Perea-RomeroOlga Zurita-MuñozBelén Jimenez-RolandoEster CarreñoBlanca García-SandovalJosé María MillánCarmen Ayuso
Published in: Acta ophthalmologica (2021)
We were unable to find a correlation between genotype and phenotype for MYO7A. However, our findings could prove useful for the assessment of efficacy in clinical trials, since the type of MYO7A variant does not seem to change the onset, severity or course of visual disease.
Keyphrases
  • clinical trial
  • phase ii
  • copy number
  • current status
  • open label
  • phase iii
  • case report
  • double blind
  • study protocol
  • gene expression
  • dna methylation