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Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
Di Iorio, Valentina; Karali, Marianthi; Melillo, Paolo; Testa, Francesco; Brunetti-Pierri, Raffaella; Musacchia, Francesco; Condroyer, Christel; Neidhardt, John; Audo, Isabelle; Zeitz, Christina; Banfi, Sandro; Simonelli, Francesca.
Afiliação
  • Di Iorio V; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.
  • Karali M; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.
  • Melillo P; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.
  • Brunetti-Pierri R; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.
  • Musacchia F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.
  • Condroyer C; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Neidhardt J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Audo I; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.
  • Zeitz C; Research Center Neurosensory Science, University Oldenburg, Oldenburg, Germany.
  • Banfi S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Simonelli F; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC, France.
Invest Ophthalmol Vis Sci ; 61(14): 36, 2020 12 01.
Article em En | MEDLINE | ID: mdl-33372982

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article