Browsing 1 USN ansatte by Journals "Ophthalmology Retina"

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    • The cone photoreceptor mosaic in aniridia: within-family phenotype-genotype discordance 

      Pedersen, Hilde Røgeberg; Neitz, Maureen; Gilson, Stuart; Landsend, Erlend Christoffer Sommer; Utheim, Øygunn Aass; Utheim, Tor Paaske; Baraas, Rigmor C. (Peer reviewed; Journal article, 2019)
      Purpose Investigate in vivo cone photoreceptor structure in familial aniridia caused by deletion in the PAX6 gene to elucidate the complexity of between-individual variation in retinal phenotype. Design Descriptive ...