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Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.

Shyamanga BorooahChloe M StantonJoseph MarshKeren J CarssNaushin WaseemPooja BiswasGeorgios AgorogiannisLucy RaymondGavin ArnoAndrew R Webster
Published in: Ophthalmic genetics (2018)
The novel mutations in C1QTNF5 identified here expand the genotypic spectrum of mutations causing late-onset retinal dystrophy.
Keyphrases
  • late onset
  • early onset
  • optical coherence tomography
  • diabetic retinopathy