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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
Content provided by Keyvan Koushan, MD, and FRCSC. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Keyvan Koushan, MD, and FRCSC or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://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

78 episodes

Artwork
iconShare
 
Manage episode 323316010 series 2416620
Content provided by Keyvan Koushan, MD, and FRCSC. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Keyvan Koushan, MD, and FRCSC or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://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

78 episodes

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