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CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

PURPOSE: To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. DESIGN: Multicenter international retrospective cohort study. METHODS: Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with d...

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Detalles Bibliográficos
Autores principales: Daich Varela, Malena, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A., Robson, Anthony G., Webster, Andrew R., AlTalbishi, Alaa, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555856/
https://www.ncbi.nlm.nih.gov/pubmed/36099972
http://dx.doi.org/10.1016/j.ajo.2022.09.002