Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study

Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of these mutations is important for accurate diagnosis, proper medical management and appropriate genetic counseling and req...

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Detalles Bibliográficos
Autores principales: Miyagawa, Maiko, Nishio, Shin-ya, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521295/
https://www.ncbi.nlm.nih.gov/pubmed/24599119
http://dx.doi.org/10.1038/jhg.2014.12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521295/
https://www.ncbi.nlm.nih.gov/pubmed/24599119
http://dx.doi.org/10.1038/jhg.2014.12

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