High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

BACKGROUND: Mutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics. METHODS: After excluding patients with GJB2 mutations and mitochondrial m...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Mizutari, Kunio, Mutai, Hideki, Namba, Kazunori, Miyanaga, Yuko, Nakano, Atsuko, Arimoto, Yukiko, Masuda, Sawako, Morimoto, Noriko, Sakamoto, Hirokazu, Kaga, Kimitaka, Matsunaga, Tatsuo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4451718/
https://ncbi.nlm.nih.gov/pubmed/25963016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0276-z
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