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Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

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Title: Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
Authors: Wolfram L; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany. lasse.wolfram@med.uni-tuebingen.de.; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany. lasse.wolfram@med.uni-tuebingen.de., Merle DA; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Kühlewein L; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Reith M; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Kempf M; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Stingl K; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Haack T; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Mazzola P; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Poths K; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Weisschuh N; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Wissinger B; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Kohl S; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany., Stingl K; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.
Source: BMC ophthalmology [BMC Ophthalmol] 2025 Apr 23; Vol. 25 (1), pp. 239. Date of Electronic Publication: 2025 Apr 23.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
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  Data: <searchLink fieldCode="AU" term="%22Wolfram+L%22">Wolfram L</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany. lasse.wolfram@med.uni-tuebingen.de.; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany. lasse.wolfram@med.uni-tuebingen.de.<br /><searchLink fieldCode="AU" term="%22Merle+DA%22">Merle DA</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kühlewein+L%22">Kühlewein L</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Reith+M%22">Reith M</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kempf+M%22">Kempf M</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Stingl+K%22">Stingl K</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+T%22">Haack T</searchLink>; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Mazzola+P%22">Mazzola P</searchLink>; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Poths+K%22">Poths K</searchLink>; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Weisschuh+N%22">Weisschuh N</searchLink>; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wissinger+B%22">Wissinger B</searchLink>; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Stingl+K%22">Stingl K</searchLink>; Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.; Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.
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  Data: <searchLink fieldCode="JN" term="%22100967802%22">BMC ophthalmology</searchLink> [BMC Ophthalmol] 2025 Apr 23; Vol. 25 (1), pp. 239. <i>Date of Electronic Publication: </i>2025 Apr 23.
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