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SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
Guan J, Wang D, Cao W, Zhao Y, Du R, Yuan H, Liu Q, Lan L, Zong L, Yang J, Yin Z, Han B, Zhang F, Wang Q. Guan J, et al. Among authors: zong l. J Hum Genet. 2016 Nov;61(11):917-922. doi: 10.1038/jhg.2016.86. Epub 2016 Jul 7. J Hum Genet. 2016. PMID: 27383657 Free PMC article.
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q. Zong L, et al. J Med Genet. 2015 Aug;52(8):523-31. doi: 10.1136/jmedgenet-2014-102961. Epub 2015 May 18. J Med Genet. 2015. PMID: 25986071 Free PMC article.
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.
Ji YB, Han DY, Lan L, Wang DY, Zong L, Zhao FF, Liu Q, Benedict-Alderfer C, Zheng QY, Wang QJ. Ji YB, et al. Among authors: zong l. Acta Otolaryngol. 2011 Feb;131(2):124-9. doi: 10.3109/00016489.2010.483479. Epub 2010 Dec 16. Acta Otolaryngol. 2011. PMID: 21162657 Free PMC article.
705 results