Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

BACKGROUND: Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients wit...

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Detalles Bibliográficos
Autores principales: Song, Mee Hyun, Kwon, Tae-Jun, Kim, Hui Ram, Jeon, Ju Hyun, Baek, Jeong-In, Lee, Won-Sang, Kim, Un-Kyung, Choi, Jae Young
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696009/
https://www.ncbi.nlm.nih.gov/pubmed/23840632
http://dx.doi.org/10.1371/journal.pone.0067236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696009/
https://www.ncbi.nlm.nih.gov/pubmed/23840632
http://dx.doi.org/10.1371/journal.pone.0067236

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