Cone dystrophy associated with autoimmune polyglandular syndrome type 1
Abstract To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed...
Main Authors: | Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2023-07-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-023-38419-9 |
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