المؤلفون: Piergentili M; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy., Spagnuolo V; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy., Murro V; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy., Mucciolo DP; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy.; Department of Ophthalmology, Pistoia Hospital, 51100 Pistoia, Italy., Giorgio D; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy.; Department of Ophthalmology, Livorno Hospital, 57124 Livorno, Italy., Passerini I; Department of Genetic Diagnosis, Careggi University Hospital, 50134 Firenze, Italy., Pelo E; Department of Genetic Diagnosis, Careggi University Hospital, 50134 Firenze, Italy., Giansanti F; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy., Virgili G; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy., Sodi A; Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50139 Firenze, Italy.

المصدر: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2024 May 11; Vol. 60 (5). Date of Electronic Publication: 2024 May 11.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

مواضيع طبية MeSH: Retinitis Pigmentosa*/genetics , Retinitis Pigmentosa*/diagnosis , Retinitis Pigmentosa*/physiopathology , Homeodomain Proteins*/genetics , Trans-Activators*/genetics, Humans ; Female ; Aged ; Italy ; Male ; Mutation, Missense ; Mutation ; Electroretinography/methods ; Phenotype