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Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A 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...

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Detalhes bibliográficos
Publicado no:Clin Med Insights Case Rep
Main Authors: Akbariazar, Elinaz, Vahabi, Ali, Abdi Rad, Isa
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6757496/
https://ncbi.nlm.nih.gov/pubmed/31579092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1179547619871907
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