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Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
BACKGROUND: Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X-linked inheritance deafness-2 (DFNX2) and on...
Autores principales: | Su, Yu, Gao, Xue, Huang, Sha-Sha, Mao, Jing-Ning, Huang, Bang-Qing, Zhao, Jian-Dong, Kang, Dong-Yang, Zhang, Xin, Dai, Pu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122742/ https://www.ncbi.nlm.nih.gov/pubmed/30176854 http://dx.doi.org/10.1186/s12881-018-0630-9 |
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