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Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Catomeris, Andrew J; Ballios, Brian G; Sangermano, Riccardo; Wagner, Naomi E; Comander, Jason I; Pierce, Eric A; Place, Emily M; Bujakowska, Kinga M; Huckfeldt, Rachel M.
Affiliation
  • Catomeris AJ; Georgetown School of Medicine, Washington, District of Columbia, USA.
  • Ballios BG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Wagner NE; Department of Ophthalmology and Vision Sciences, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Comander JI; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Pierce EA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Place EM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Huckfeldt RM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
Ophthalmic Genet ; 43(3): 332-339, 2022 06.
Article in En | MEDLINE | ID: mdl-35057699
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Dystrophies / Macular Degeneration Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: America do norte Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2022 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Dystrophies / Macular Degeneration Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: America do norte Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2022 Type: Article Affiliation country: United States