Arts syndrome is caused by loss-of-function mutations in PRPS1 by de Brouwer Arjan P M, Williams Kelly L, Duley John A, van Kuilenburg André B P, Nabuurs Sander B, Egmont-Petersen Michael, Lugtenberg Dorien, Zoetekouw Lida, Banning Martijn J G, Roeffen Melissa, Hamel Ben C J, Weaving Linda, Ouvrier Robert A, Donald Jennifer A, Wevers Ron A, Christodoulou John, van Bokhoven Hans in American journal of human genetics (2007).

[PMID: 17701896] PubMed

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