A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

BACKGROUND: Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family. CASE PRESENTATION: The proband with profound hearing loss had received audiomet...

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Detalles Bibliográficos
Autores principales: Ma, Di, Shen, Shanshan, Gao, Hui, Guo, Hui, Lin, Yumei, Hu, Yuhua, Zhang, Ruanzhang, Wang, Shayan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090657/
https://www.ncbi.nlm.nih.gov/pubmed/30068307
http://dx.doi.org/10.1186/s12881-018-0657-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090657/
https://www.ncbi.nlm.nih.gov/pubmed/30068307
http://dx.doi.org/10.1186/s12881-018-0657-y

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