PRPS1 -associated retinopathy: a diagnostic odyssey
Author:
Affiliation:
1. Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2. Ophthalmology Department, King Saud University Medical City, Riyadh, Saudi Arabia
Funder
funding associated
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2321871
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4. Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA
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1. Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient;Ophthalmic Genetics;2024-08-16
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