De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

OBJECTIVE: In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene. METHODS: One hundred ninety-four (194) Japanese subjects from unrelated and families were enrolled in this study. We used targeted genomic e...

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Vydáno v:Ann Otol Rhinol Laryngol
Hlavní autoři: Moteki, Hideaki, Shearer, A Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T, Sloan, Christina M, Kolbe, Diana L, Smith, Richard JH, Usami, Shin-ichi
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4441833/
https://ncbi.nlm.nih.gov/pubmed/25792666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0003489415575042
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