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Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY. Pang J, et al. Among authors: hawkins lee b. Am J Hum Genet. 2010 Jun 11;86(6):957-62. doi: 10.1016/j.ajhg.2010.04.016. Am J Hum Genet. 2010. PMID: 20560209 Free PMC article.