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A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family

✍ Scribed by Chai, Yongchuan; Chen, Dongye; Wang, Xiaowen; Wu, Hao; Yang, Tao


Book ID
124112917
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
829 KB
Volume
78
Category
Article
ISSN
0165-5876

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## Abstract Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the β€˜Eyes absent 4’ (EYA4) protein were identified. We report on the clinical and genetic analyses of an Austr