Article
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
Clinical genetics - 1 Sept 2016
Zhang Q-J, Han B, Lan L, Zong L, Shi W, Wang H-Y, Xie L-Y, Wang H, Zhao C, Zhang C, Yin Z-F, Wang D-Y, Petit C, Guan J, Wang Q-J
Abstract excerpt
Auditory neuropathy spectrum disorder (ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in...
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