Characterizing and Distinguishing Progressive Phenotypes in Nonsyndromic Autosomal Dominant Hearing Impairment
Author:
Publisher
Informa UK Limited
Subject
Speech and Hearing
Link
http://www.tandfonline.com/doi/pdf/10.1080/16513860310003049
Reference22 articles.
1. Speech Recognition Scores Related to Age and Degree of Hearing Impairment in DFNA2/KCNQ4 and DFNA9/COCH
2. Progressive Cochleovestibular Impairment Caused by a Point Mutation in theCOCHGene at DFNA9
3. Linkage of Autosomal Dominant Hearing Loss to the Short Arm of Chromosome 1 in Two Families
4. The DFNA10 Phenotype
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1. Analysis of Rotterdam Study cohorts confirms a previously identifiedRIPOR2in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands;Journal of Medical Genetics;2023-05-10
2. Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses;European Journal of Human Genetics;2023-04-19
3. Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38;Genes;2023-02-10
4. Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants;Human Genetics;2022-02-28
5. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis;Biomolecules;2022-01-27
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