Report of a Novel Splicing Mutation in the Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the Mutations
Introduction: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported in patients affected with ARNSHL. In the pres...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2019-09-01
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Series: | Clinical Medicine Insights: Case Reports |
Online Access: | https://doi.org/10.1177/1179547619871907 |