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Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H. Liu X, et al. Among authors: du ll. Am J Hum Genet. 2010 Jan;86(1):65-71. doi: 10.1016/j.ajhg.2009.11.015. Am J Hum Genet. 2010. PMID: 20021999 Free PMC article.
Etiologic diagnosis of sensorineural hearing loss in adults.
Angeli SI, Yan D, Telischi F, Balkany TJ, Ouyang XM, Du LL, Eshraghi A, Goodwin L, Liu XZ. Angeli SI, et al. Among authors: du ll. Otolaryngol Head Neck Surg. 2005 Jun;132(6):890-5. doi: 10.1016/j.otohns.2005.03.001. Otolaryngol Head Neck Surg. 2005. PMID: 15944560
211 results