Blar i Fakultet for helse- og sosialvitenskap på tidsskrift "Ophthalmology Retina"
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The cone photoreceptor mosaic in aniridia: within-family phenotype-genotype discordance
(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 ...