Arts-Syndrom ist eine letale x-chromosomal rezessive Erkrankung, die durch Mutationen im PRPS1-Gen hervorgerufen wird. Sie ist charakterisiert durch Ataxie, Schwerhörigkeit und Optikusatrophie.
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Arts WF et al. (1993) X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. |
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de Brouwer AP et al. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1. |
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de Brouwer AP et al. (2010) PRPS1 mutations: four distinct syndromes and potential treatment. |
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Moran R et al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. |
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Synofzik M et al. (2014) 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. |
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Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. |
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Schmidley JW et al. (1987) Infantile X-linked ataxia and deafness: a new clinicopathologic entity? |
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Orphanet article Orphanet ID 1187 |
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OMIM.ORG article Omim 301835 |
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Wikipedia Artikel Wikipedia DE (Arts-Syndrom) |