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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...
Gorde:
| Argitaratua izan da: | Ann Otol Rhinol Laryngol |
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| Egile Nagusiak: | , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2015
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| Gaiak: | |
| Sarrera elektronikoa: | 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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