Cargando…
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management
Objective: The objective of this study is to analyze the genotype–phenotype correlation of patients with auditory neuropathy (AN), which is a clinical condition featuring normal cochlear responses and abnormal neural responses, and ATP1A3 c.2452 G > A (p.E818K), which has been generally recognize...
Autores principales: | Wang, Wenjia, Li, Jin, Lan, Lan, Xie, Linyi, Xiong, Fen, Guan, Jing, Wang, Hongyang, Wang, Qiuju |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8531511/ https://www.ncbi.nlm.nih.gov/pubmed/34692702 http://dx.doi.org/10.3389/fcell.2021.749484 |
Ejemplares similares
-
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
por: Wang, Hongyang, et al.
Publicado: (2020) -
Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation
por: Wang, Hongyang, et al.
Publicado: (2021) -
The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission
por: Wu, Kaili, 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) -
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
por: Wang, Xiao-Fang, et al.
Publicado: (2021)