Case report on a de novo variant in the X-linked
            <i>PRPS1</i>
            gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient

Sather, Richard N.; Brown, Caroline; Montezuma, Sandra R.

doi:10.1080/13816810.2024.2388598

Ophthalmic Genetics

2024

DOI: 10.1080/13816810.2024.2388598

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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

Richard N. Sather,

Caroline Brown,

Sandra R. Montezuma

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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

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References 21 publications

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