Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome.
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| Title: | Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome. |
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| Authors: | Haefeli LM; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Paredes DI; Departamento de Oftalmologia, Facultad de Medicina, Pontificia Universidad Catolica de Chile, Santiago de Chile., Wyman CS; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York., Capasso JE; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York., Chattannavar G; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India ., Khetan V; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York., Tallis E; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York., Levin AV; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York. |
| Source: | Retinal cases & brief reports [Retin Cases Brief Rep] 2026 Jul 06. Date of Electronic Publication: 2026 Jul 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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