| 1 | ARTS, PRPS1
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| 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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| Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L.
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| Orphanet J Rare Dis 9:24. doi: 10.1186/1750-1172-9-24.
2014
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| 2 | ARTS, CMTX5, DFN2, PRPS1
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| PRPS1 mutations: four distinct syndromes and potential treatment.
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| de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J.
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| Am J Hum Genet 86(4):506-18. Review.PMID: 20380929 2010
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| 3 | ARTS,PRPS1
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| Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1.
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| de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
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| Am J Hum Genet 81(3):507-518. Epub 2007 Aug 3. 2007
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| 4 | ARTS, CMTX5, DFN2, PRPS1
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| Arts syndrome is caused by loss-of-function mutations in PRPS1.
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| de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
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| Am J Hum Genet 81(3):507-18. Epub 2007 Aug 3.PMID: 17701896 2007
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| 5 | ARTS
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| 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.
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| Kremer H, et al.
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| Hum Genet 98 : 513-517. 1996
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| 6 | ARTS
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| X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.
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| Arts WF, Loonen MC, Sengers RC, Slooff JL.
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| Ann Neurol 33(5):535-9. 1993
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