Article

Very early-onset retinal degeneration and sensorineural hearing loss in two unrelated female infants with PRS deficiency

2025-04-23

Abstract excerpt

<title>Abstract</title> <p>Phosphoribosyl pyrophosphate synthetase (PRS) deficiency, an X-linked condition caused by loss-of-function variants in PRPS1, manifests as a phenotypic continuum encompassing three previously distinct disorders: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked non-syndromic sensorineural hearing loss (DFNX1). Males are typically more severely affected, while...

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Literature Corpus work: 522b751e-96e2-527e-a235-e528d3a02b38
DOI: 10.21203/rs.3.rs-6469359/v1

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