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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...

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Detalles Bibliográficos
Autores principales: Han, Rui, Xia, Yan, Liu, Zhijuan, Wu, Shuang, Ye, Erdengqieqieke, Duan, Ling, Ding, Jianbing, La, Xiaolin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
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