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Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma, Mariana Matioli; Marra, Molly; Igelman, Austin D; Ku, Cristy A; Burr, Amanda; Andersen, Katherine; Everett, Lesley A; Porto, Fernanda B O; Sallum, Juliana Maria Ferraz; Yang, Paul; Pennesi, Mark E.
Afiliación
  • da Palma MM; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Marra M; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo Escola Paulista de Medicina (UNIFESP), São Paulo, Brazil.
  • Igelman AD; Instituto de Genética Ocular, São Paulo, Brazil.
  • Ku CA; Department of Surgery & Hospital Clinic of Barcelona, School of Medicine, Universitat de Barcelona, Barcelona, Spain.
  • Burr A; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Andersen K; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Everett LA; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Porto FBO; Department of Ophthalmology & Vision Science, University of California Davis, Sacramento, California, USA.
  • Sallum JMF; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Yang P; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Pennesi ME; Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA.
Ophthalmic Genet ; 45(2): 167-174, 2024 Apr.
Article en En | MEDLINE | ID: mdl-37592806
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article