Tariq A. Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad
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PRPS1-associated retinopathy: a diagnostic odyssey
This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot—Marie—Tooth disease type 5.A 38-year-old female with bilaterally subnormal vision an...
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Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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