Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

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Title: Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
Authors: Sallo FB; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Dysli C; Department of Ophthalmology, Inselspital, University of Bern, Bern, Switzerland., Holzer FJ; Department of Neurology, University Hospitals of Geneva, Geneva, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Guipponi M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Munier FL; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Bird AC; Department Medical Retina, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom., Schorderet DF; Institute for Research in Ophthalmology, Sion, Switzerland.; Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.; Faculty of Life Sciences, Ecole Polytechnique Federal de Lausanne, Lausanne, Switzerland., Rossillion B; Vision Rive Droite SA, Grand-Saconnex, Geneva, Switzerland., Vaclavik V; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.; Ophthalmology Department, Hôpital Cantonal de Fribourg, HFR, Fribourg, Switzerland.
Source: Ophthalmology science [Ophthalmol Sci] 2024 Sep 11; Vol. 5 (1), pp. 100618. Date of Electronic Publication: 2024 Sep 11 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2666-9145
DOI:10.1016/j.xops.2024.100618