Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
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| Title: | Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport. |
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| Authors: | Ullah M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Rehman AU; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan., Shetty M; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Allen MD; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Signorini SG; Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy., des Roziers CB; Laboratoire SeqOIA, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, Paris, France., Grijalva RM; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Rashid A; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland., Munir A; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan., Porretta AP; Service de cardiologie, Département cœur-vaisseaux, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.; CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Agather AR; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Dimopoulos I; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Malandain E; Department of Ophthalmology, Rouen University Hospital and University of Rouen, Rouen, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Ansar M; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Sindh, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Superti-Furga A; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland., Jan S; Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan.; Pakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Calzetti G; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Vista Vision Eye Clinic, Brescia, Italy., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom., Henry LK; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom. |
| Source: | JAMA ophthalmology [JAMA Ophthalmol] 2026 Jan 01; Vol. 144 (1), pp. 70-78. |
| Publication Type: | Journal Article; Multicenter Study; Observational Study |
| Journal Info: | Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2168-6173 |
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| DOI: | 10.1001/jamaophthalmol.2025.4875 |
