Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome
Author:
Affiliation:
1. Department of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, Kentucky, USA
2. Molecular and Cellular Biochemistry Center for Structural Biology, University of Kentucky, Lexington, Kentucky, USA
Funder
National Institutes of Health
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1891552
Reference13 articles.
1. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
2. Atypical and ultra-rare Usher syndrome: a review
3. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
4. Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4
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