Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical characteristics and molecular findings in IP-III patients by Sanger or nanopore s...

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Detalles Bibliográficos
Autores principales: Chen, Ying, Qiu, Jiajun, Wu, Yingwei, Jia, Huan, Jiang, Yi, Jiang, Mengda, Wang, Zhili, Sheng, Hai-Bin, Hu, Lingxiang, Zhang, Zhihua, Wang, Zhaoyan, Li, Yun, Huang, Zhiwu, Wu, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862311/
https://www.ncbi.nlm.nih.gov/pubmed/35189936
http://dx.doi.org/10.1186/s13023-022-02235-7

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