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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Detalles Bibliográficos
Autores principales: Akbariazar, Elinaz, Vahabi, Ali, Abdi Rad, Isa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757496/
https://www.ncbi.nlm.nih.gov/pubmed/31579092
http://dx.doi.org/10.1177/1179547619871907

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757496/
https://www.ncbi.nlm.nih.gov/pubmed/31579092
http://dx.doi.org/10.1177/1179547619871907

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