Article
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
PloS one - 1 Jan 2014
Zhao Jiandong, Yuan Yongyi, Huang Shasha, Huang Bangqing, Cheng Jing, Kang Dongyang, Wang Guojian, Han Dongyi, Dai Pu
Abstract excerpt
BACKGROUND: Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese...
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