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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Ann Otol Rhinol Laryngol
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
Materias:
Article
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares