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
Author:
Affiliation:
1. Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, Minnesota, USA
Funder
Minnesota Lions Vision Foundation
Knobloch Chair Professorship
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2388598
Reference22 articles.
1. PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment
2. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation
3. New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
4. Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
5. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
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