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A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of BO syndrome in a Chinese deaf family. The proposita in this study was a 29-years-old Chinese female with hearing loss, microtia, anterior conc...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238333/ https://www.ncbi.nlm.nih.gov/pubmed/34160378 http://dx.doi.org/10.1097/MD.0000000000024691 |