A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

BACKGROUND: The most frequent clinical presentation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual progressive sensorineural hearing loss, which begins with impairment at high frequencies and eventually progresses to hearing loss at all frequencies. A...

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Detalles Bibliográficos
Autores principales: Li, Qiong, Wang, Shujuan, Liang, Pengfei, Li, Wei, Wang, Jian, Fan, Bei, Yang, Yang, An, Xiaogang, Chen, Jun, Zha, Dingjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306051/
https://www.ncbi.nlm.nih.gov/pubmed/35864542
http://dx.doi.org/10.1186/s12920-022-01315-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306051/
https://www.ncbi.nlm.nih.gov/pubmed/35864542
http://dx.doi.org/10.1186/s12920-022-01315-8

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