Cargando…
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
To decipher the genotype-phenotype correlation of auditory neuropathy (AN) caused by AIFM1 variations, as well as the phenotype progression of these patients, exploring the potential molecular pathogenic mechanism of AN. A total of 36 families of individuals with AN (50 cases) with AIFM1 variations...
Autores principales: | Wang, Hongyang, Bing, Dan, Li, Jin, Xie, Linyi, Xiong, Fen, Lan, Lan, Wang, Dayong, Guan, Jing, Wang, Qiuju |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350177/ https://www.ncbi.nlm.nih.gov/pubmed/32684920 http://dx.doi.org/10.1155/2020/5625768 |
Ejemplares similares
-
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management
por: Wang, Wenjia, et al.
Publicado: (2021) -
The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission
por: Wu, Kaili, et al.
Publicado: (2022) -
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy
por: Wang, Rongrong, et al.
Publicado: (2022) -
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy
por: Wang, Hongyang, et al.
Publicado: (2019) -
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss
por: Wang, Hongyang, et al.
Publicado: (2018)