Hearing Impairment with Monoallelic GJB2 Variants-Reference-Cited by-同舟云学术

Hearing Impairment with Monoallelic GJB2 Variants

Published:2021-10 Issue:10 Volume:23 Page:1279-1291
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Lin Yi-Hsin,Wu Ping-Che,Tsai Cheng-Yu,Lin Yin-Hung,Lo Ming-Yu,Hsu Shu-Jui^ORCID,Lin Pei-Hsuan,Erdenechuluun Jargalkhuu,Wu Hung-Pin,Hsu Chuan-Jen,Wu Chen-Chi,Chen Pei-Lung

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference100 articles.

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2. GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype;Chan;Laryngoscope,2014

3. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance;Pollak;Am J Med Genet A,2007

4. Connexin-26-associated deafness: phenotypic variability and progression of hearing loss;Chan;Genet Med,2010

5. Genetic Analysis Consortium of GJB2 35delG. High carrier frequency of the 35delG deafness mutation in European populations.;Gasparini;Eur J Hum Genet,2000

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1. The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates;European Journal of Human Genetics;2024-03-15

2. Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles;Children;2024-02-03

3. The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates;2024-01-17

4. Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111;American Journal of Medical Genetics Part A;2024-01-10

5. Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus;Human Mutation;2024-01