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Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

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Title: Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.
Authors: Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.; Department of Ophthalmology, St. James's University Hospital, University of Leeds, Leeds, United Kingdom., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; The Rotterdam Eye Hospital and Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medicine and Health Science, University of Auckland, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Te Toka Tumai, Auckland, New Zealand., Vargas G; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada., Corominas J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Inglehearn CF; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Koenekoop RK; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Departments of Paediatric Surgery, Hum Genet, and Adult Ophthalmology, McGill University Health Center, Montreal, Quebec, Canada., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2025 Jun 02; Vol. 66 (6), pp. 19.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
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  Data: Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Panneman+DM%22">Panneman DM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hitti-Malin+RJ%22">Hitti-Malin RJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22McKibbin+M%22">McKibbin M</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.; Department of Ophthalmology, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22de+Bruijn+SE%22">de Bruijn SE</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Boonen+EGM%22">Boonen EGM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; The Rotterdam Eye Hospital and Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vincent+AL%22">Vincent AL</searchLink>; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medicine and Health Science, University of Auckland, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Te Toka Tumai, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Vargas+G%22">Vargas G</searchLink>; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Corominas+J%22">Corominas J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Astuti+G%22">Astuti G</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22De+Baere+E%22">De Baere E</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Inglehearn+CF%22">Inglehearn CF</searchLink>; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Roosing+S%22">Roosing S</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Koenekoop+RK%22">Koenekoop RK</searchLink>; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.; Departments of Paediatric Surgery, Hum Genet, and Adult Ophthalmology, McGill University Health Center, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Cremers+FPM%22">Cremers FPM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
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