Article
Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.
International journal of pediatric otorhinolaryngology - 1 Dec 2014
Lin Fangzhu, Li Dejun, Wang Ping, Fan Dongyan, De Ji, Zhu Wei
Abstract excerpt
OBJECTIVES: Hearing loss is the most common sensory disorder worldwide. Biallelic mutations in 42 different genes have been identified as associated with autosomal recessive non-syndromic hearing loss (ARNSHL). One of the common genes responsible for ARNSHL is TMC1. TMC1 mutations have been reported to cause non-syndromic hearing loss in a variety of populations. The current study is designed to investigate...
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