Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria
Author:
Publisher
Elsevier BV
Subject
Sensory Systems
Reference23 articles.
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2. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6;Bolz;Hear. Res.,2004
3. Epidemiology, etiology and genetic patterns;Cohen,1995
4. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment;del Castillo;N. Engl. J. Med.,2002
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1. Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families;Molecular Genetics & Genomic Medicine;2020-02-17
2. Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis;Frontiers in Molecular Neuroscience;2019-12-20
3. A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall;Neurobiology of Disease;2017-12
4. Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation;European Archives of Oto-Rhino-Laryngology;2017-08-18
5. A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment;Otology & Neurotology;2017-02
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