Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy

PURPOSE: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod–cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults. DESIGN: Retrospective cohort study. PARTICIPANTS: Patients with pathogenic variants...

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Detalles Bibliográficos
Autores principales: Bocquet, Béatrice, El Alami Trebki, Hicham, Roux, Anne Françoise, Labesse, Gilles, Brabet, Philippe, Arndt, Carl, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Hamroun, Dalil, Boulicot-Séguin, Céline, Lequeux, Léopoldine, Picot, Marie Christine, Huguet, Hélèna, Audo, Isabelle, Dhaenens, Claire Marie, Kalatzis, Vasiliki, Meunier, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9559097/
https://www.ncbi.nlm.nih.gov/pubmed/36247817
http://dx.doi.org/10.1016/j.xops.2021.100052

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