Article
MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.
International journal of pediatric otorhinolaryngology - 1 May 2017
Motavaf Mahsa, Soveizi Mahdieh, Maleki Majid, Mahdieh Nejat
Abstract excerpt
Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we applied targeted-exome sequencing to a family with a single proband affected by congenital...
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