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...

Descripción completa

Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Genetics
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

Internet

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

Ejemplares similares