Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy-Reference-Cited by-同舟云学术

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Published:2022-01-20 Issue:3 Volume:43 Page:332-339
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Catomeris Andrew J.¹²,Ballios Brian G.²³^ORCID,Sangermano Riccardo²,Wagner Naomi E.²^ORCID,Comander Jason I.²,Pierce Eric A.²^ORCID,Place Emily M.²,Bujakowska Kinga M.²,Huckfeldt Rachel M.²^ORCID

Affiliation:

1. Georgetown School of Medicine, Washington, District of Columbia, USA

2. Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA

3. Department of Ophthalmology and Vision Sciences, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada

Funder

National Eye Institute

Foundation Fighting Blindness

Curing Kids Foundation

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.2023196

Reference36 articles.

1. The molecular basis of human retinal and vitreoretinal diseases

2. Clld7, A Candidate Tumor Suppressor on Chromosome 13q14, Regulates Pathways of DNA Damage/Repair and Apoptosis

3. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

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