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E59-Novel RCBTB1 variants and late-onset retinal dystrophy- Dr. Brian Ballios

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Manage episode 323316010 series 2416620
内容由Keyvan Koushan, MD, and FRCSC提供。所有播客内容(包括剧集、图形和播客描述)均由 Keyvan Koushan, MD, and FRCSC 或其播客平台合作伙伴直接上传和提供。如果您认为有人在未经您许可的情况下使用您的受版权保护的作品,您可以按照此处概述的流程进行操作https://zh.player.fm/legal
Dr. Ballios discusses his group's findings on novel mutations in the RCBTB1 gene that can cuase late-onset non-syndromic retinal dystrophies mimicking macular degeneration.

Full article:

Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20:1-8. doi: 10.1080/13816810.2021.2023196. Epub ahead of print. PMID: 35057699.

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Manage episode 323316010 series 2416620
内容由Keyvan Koushan, MD, and FRCSC提供。所有播客内容(包括剧集、图形和播客描述)均由 Keyvan Koushan, MD, and FRCSC 或其播客平台合作伙伴直接上传和提供。如果您认为有人在未经您许可的情况下使用您的受版权保护的作品,您可以按照此处概述的流程进行操作https://zh.player.fm/legal
Dr. Ballios discusses his group's findings on novel mutations in the RCBTB1 gene that can cuase late-onset non-syndromic retinal dystrophies mimicking macular degeneration.

Full article:

Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20:1-8. doi: 10.1080/13816810.2021.2023196. Epub ahead of print. PMID: 35057699.

  continue reading

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