Cargando…
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...
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: | |
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 |
Ejemplares similares
-
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
por: Eisenberger, Tobias, et al.
Publicado: (2018) -
Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family
por: Wang, Honghan, et al.
Publicado: (2015) -
Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
por: Aldè, Mirko, et al.
Publicado: (2023) -
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
por: Booth, Kevin T., et al.
Publicado: (2018) -
Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family
por: Chen, Xi, et al.
Publicado: (2020)