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 WebsterPublished in: Ophthalmic genetics (2018)
The novel mutations in C1QTNF5 identified here expand the genotypic spectrum of mutations causing late-onset retinal dystrophy.