Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

BACKGROUND: MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to possibly ca...

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Detalles Bibliográficos
Autores principales: Chang, Mun Young, Lee, Chung, Han, Jin Hee, Kim, Min Young, Park, Hye-Rim, Kim, Nayoung, Park, Woong-Yang, Oh, Doo Yi, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389081/
https://www.ncbi.nlm.nih.gov/pubmed/29482514
http://dx.doi.org/10.1186/s12881-018-0541-9

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