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

Abstract Background Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many populations. In some deaf GJB2 heterozygotes, a 309 kb deletion involving the GJB6 has been found to be the cause for hearing loss when i...

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Bibliographic Details
Main Authors: Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1171