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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy

W. Bailey Glen Jr.Pathology and Laboratory Medicine, Medical University of South Carolina;Center for Genomic Medicine, Medical University of South CarolinaCorrespondence[email protected]
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M. Millicent W. PeterseimStorm Eye Institute/Department of Ophthalmology, Medical University of South CarolinaView further author information

Ramses BadillaGenetics and Metabolism, National Children's Hospital, San José, Costa Rica;Caja Costarricense del Seguro SocialView further author information

Iya ZnoykoPathology and Laboratory Medicine, Medical University of South CarolinaView further author information

Andre BourgDepartment of Medicine, Medical University of South CarolinaView further author information

Robert WilsonPathology and Laboratory Medicine, Medical University of South Carolina;Center for Genomic Medicine, Medical University of South CarolinaView further author information

Gary HardimanCenter for Genomic Medicine, Medical University of South Carolina;Department of Medicine, Medical University of South Carolina;Institute for Global Food Security, Queen's University BelfastView further author information

Daynna WolffPathology and Laboratory Medicine, Medical University of South CarolinaView further author information

Joaquin MartinezCaja Costarricense del Seguro Social;Division of Ophthalmology, National Children's Hospital, San José, Costa RicaView further author information

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Citations (7)

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Articles from other publishers (7)

Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim & Suk Ho Byeon. (2023) Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. Korean Journal of Ophthalmology 37:2, pages 166-186.
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Birgit Lorenz, Joana Tavares, L. Ingeborgh van den Born, João Pedro Marques, Elisabetta Pilotto, Katarina Stingl, Peter Charbel Issa, Dorothée Leroux, Hélène Dollfus & Hendrik P.N. Scholl. (2023) Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey. Ophthalmic Research, pages 727-748.
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Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato & M. Dominik Fischer. (2022) Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. Advances in Therapy 39:3, pages 1179-1198.
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Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy & Periasamy Sundaresan. (2021) Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. Eye and Vision 8:1.
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Rosario Lopez-Rodriguez, Esther Lantero, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin Merida, Marta del Pozo-Valero, Irene Perea-Romero, Olga Zurita, Belén Jiménez-Rolando, Saoud Tahsin Swafiri, Rosa Riveiro-Alvarez, María José Trujillo-Tiebas, Ester Carreño Salas, Blanca García-Sandoval, Marta Corton & Carmen Ayuso. (2021) RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients. Experimental Eye Research 212, pages 108761.
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Adrian Dockery, Laura Whelan, Pete Humphries & G. Jane Farrar. (2021) Next-Generation Sequencing Applications for Inherited Retinal Diseases. International Journal of Molecular Sciences 22:11, pages 5684.
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Anogeianakis George A, Loukovitis Eleftherios D, Stoimeni Anastasia A, Tranos Paris G & Koukoula Stavrenia Ch. (2020) Recent Developments on the major genes involved in retinitis pigmentosa. IP International Journal of Ocular Oncology and Oculoplasty 6:3, pages 157-166.
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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy

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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy

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