Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.
Saved in:
| 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 |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
