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Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Jorge PincayMarilyn RodriguezDivya KaushalStephen H Tsang
Published in: Documenta ophthalmologica. Advances in ophthalmology (2024)
This rod-sparing result was consistent with cone-dystrophy and is the first known case of a rod-sparing ffERG phenotype in a BBS patient with mutations in the ARL6 gene. This contributes to the existing phenotype and may potentially contribute to furthering our understanding of BBS pathophysiology.
Keyphrases
  • case report
  • robot assisted
  • copy number
  • genome wide
  • early onset
  • gene expression
  • minimally invasive
  • transcription factor