Browsing Department of Biomedicine by Journals "Ophthalmic Genetics"
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Dominant ARL3-related retinitis pigmentosa
(Peer reviewed; Journal article, 2019)Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). Methods: Clinical examination included optical ...