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Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

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Title: Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Authors: Karali M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131, Naples, Italy., García-García G; Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia, Spain.; Center for Rare Diseases (CIBERER), Madrid, Spain.; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain., Kaminska K; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland., AlTalbishi A; St John of Jerusalem Eye Hospital, Jerusalem, Palestine., Cancellieri F; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland., Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131, Naples, Italy., Barillari MR; Department of Mental and Physical Health and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy., Panagiotou ES; 1st Department of Ophthalmology, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Psillas G; 1st Academic ENT Department, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece., Vaclavik V; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004, Lausanne, Switzerland., Tran VH; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004, Lausanne, Switzerland.; Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK., Janeschitz-Kriegl L; Department of Ophthalmology, University of Basel, Basel, Switzerland., Scholl HP; Department of Ophthalmology, University of Basel, Basel, Switzerland., Salameh M; St John of Jerusalem Eye Hospital, Jerusalem, Palestine., Barberán-Martínez P; Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia, Spain.; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain., Rodríguez-Muñoz A; University Dr Peset Hospital of Valencia, Valencia, Spain., Armengot M; University and Polytechnic La Fe Hospital of Valencia, Valencia, Spain., Scarpato M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy., Zeuli R; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131, Naples, Italy., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Banfi S; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy. banfi@tigem.it.; Telethon Institute of Genetics and Medicine, 80078, Pozzuoli, Italy. banfi@tigem.it., Millán JM; Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia, Spain. jose_millan@iislafe.es.; Center for Rare Diseases (CIBERER), Madrid, Spain. jose_millan@iislafe.es.; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain. jose_millan@iislafe.es.; 1st Department of Ophthalmology, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece. jose_millan@iislafe.es.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jun; Vol. 33 (6), pp. 727-737. Date of Electronic Publication: 2024 Dec 13.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
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  Data: <searchLink fieldCode="AU" term="%22Karali+M%22">Karali M</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22García-García+G%22">García-García G</searchLink>; Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia, Spain.; Center for Rare Diseases (CIBERER), Madrid, Spain.; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Kaminska+K%22">Kaminska K</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22AlTalbishi+A%22">AlTalbishi A</searchLink>; St John of Jerusalem Eye Hospital, Jerusalem, Palestine.<br /><searchLink fieldCode="AU" term="%22Cancellieri+F%22">Cancellieri F</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Testa+F%22">Testa F</searchLink>; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Barillari+MR%22">Barillari MR</searchLink>; Department of Mental and Physical Health and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Panagiotou+ES%22">Panagiotou ES</searchLink>; 1st Department of Ophthalmology, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Psillas+G%22">Psillas G</searchLink>; 1st Academic ENT Department, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Vaclavik+V%22">Vaclavik V</searchLink>; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Tran+VH%22">Tran VH</searchLink>; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004, Lausanne, Switzerland.; Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Janeschitz-Kriegl+L%22">Janeschitz-Kriegl L</searchLink>; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Scholl+HP%22">Scholl HP</searchLink>; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Salameh+M%22">Salameh M</searchLink>; St John of Jerusalem Eye Hospital, Jerusalem, Palestine.<br /><searchLink fieldCode="AU" term="%22Barberán-Martínez+P%22">Barberán-Martínez P</searchLink>; Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia, Spain.; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Rodríguez-Muñoz+A%22">Rodríguez-Muñoz A</searchLink>; University Dr Peset Hospital of Valencia, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Armengot+M%22">Armengot M</searchLink>; University and Polytechnic La Fe Hospital of Valencia, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Scarpato+M%22">Scarpato M</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Zeuli+R%22">Zeuli R</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Quinodoz+M%22">Quinodoz M</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.<br /><searchLink fieldCode="AU" term="%22Simonelli+F%22">Simonelli F</searchLink>; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.<br /><searchLink fieldCode="AU" term="%22Banfi+S%22">Banfi S</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138, Naples, Italy. banfi@tigem.it.; Telethon Institute of Genetics and Medicine, 80078, Pozzuoli, Italy. banfi@tigem.it.<br /><searchLink fieldCode="AU" term="%22Millán+JM%22">Millán JM</searchLink>; Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia, Spain. jose_millan@iislafe.es.; Center for Rare Diseases (CIBERER), Madrid, Spain. jose_millan@iislafe.es.; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain. jose_millan@iislafe.es.; 1st Department of Ophthalmology, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece. jose_millan@iislafe.es.
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