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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
PURPOSE: The purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants. METHODS: Patients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) as par...
Autores principales: | Jurkute, Neringa, Shanmugarajah, Priya D., Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G., Raymond, F. Lucy, Reilly, Mary M., Yu-Wai-Man, Patrick, Moore, Anthony T., Webster, Andrew R., Arno, Gavin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107637/ https://www.ncbi.nlm.nih.gov/pubmed/33938912 http://dx.doi.org/10.1167/iovs.62.6.2 |
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