Arts-Syndrom

Arts WF et al. (1993) X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

de Brouwer AP et al. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1.

de Brouwer AP et al. (2010) PRPS1 mutations: four distinct syndromes and potential treatment.

Moran R et al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

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.

Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Schmidley JW et al. (1987) Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

Kremer H et al. (1996) Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Orphanet article

OMIM.ORG article

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