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Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.
Vilares-Morgado, Rodrigo; Ferreira, Ana Margarida; Santos-Silva, Renato; Quental, Rita; Carneiro, Ângela; Estrela-Silva, Sérgio.
Afiliación
  • Vilares-Morgado R; Department of Ophthalmology, Centro Hospitalar Universitário de S. João, Porto, Portugal.
  • Ferreira AM; Department of Surgery and Physiology, Faculty of Medicine, University of Porto, Porto, Portugal.
  • Santos-Silva R; Department of Ophthalmology, Centro Hospitalar Universitário de S. João, Porto, Portugal.
  • Quental R; Department of Ophthalmology, Centro Hospitalar Universitário de S. João, Porto, Portugal.
  • Carneiro Â; Department of Surgery and Physiology, Faculty of Medicine, University of Porto, Porto, Portugal.
  • Estrela-Silva S; Department of Human Genetics, Centro Hospitalar Universitário de S. João, Porto, Portugal.
Case Rep Ophthalmol ; 14(1): 519-527, 2023.
Article en En | MEDLINE | ID: mdl-37901634

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Case Rep Ophthalmol Año: 2023 Tipo del documento: Article País de afiliación: Portugal

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Case Rep Ophthalmol Año: 2023 Tipo del documento: Article País de afiliación: Portugal