Non-Syndromal Autosomal Dominant Hearing Impairment: Ongoing Phenotypical Characterization of Genotypes
Author:
Publisher
Informa UK Limited
Subject
Otorhinolaryngology
Link
http://www.tandfonline.com/doi/pdf/10.3109/03005369909090117
Reference87 articles.
1. Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss
2. Progressive Cochleovestibular Impairment Caused by a Point Mutation in theCOCHGene at DFNA9
3. A Novel Locus for Autosomal Dominant Nonsyndromic Hearing Loss, DFNA13, Maps to Chromosome 6p
4. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
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1. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis;Biomolecules;2022-01-27
2. Attitudes of Potential Participants Towards Potential Gene Therapy Trials in Autosomal Dominant Progressive Sensorineural Hearing Loss;Otology & Neurotology;2020-12-08
3. Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss;Frontiers in Neurology;2020-04-21
4. Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review;Frontiers in Neuroscience;2018-01-09
5. Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating;PLoS ONE;2014-10-07
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