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Arts syndrome is caused by loss-of-function mutations in PRPS1.

Pubmed ID: 
17701896
Year: 
2007
Month: 
Sep
Volume: 
81
Issue: 
3
Citation: 
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. Arts syndrome is caused by loss-of-function mutations in PRPS1. American Journal of Human Genetics 81 (3) : 507 - 18(2007) PubMed