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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Description
ISSN:1471-2415
DOI:10.1186/s12886-025-04048-1