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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
BACKGROUND: Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafn...
Shranjeno v:
izdano v: | Orphanet J Rare Dis |
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Main Authors: | , , , , , , , , , , , , , , , , , |
Format: | Artigo |
Jezik: | Inglês |
Izdano: |
BioMed Central
2014
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Teme: | |
Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4272780/ https://ncbi.nlm.nih.gov/pubmed/25491489 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0190-9 |
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