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

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 inherited...

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Detalles Bibliográficos
Autores principales: Pandya, Arti, O'Brien, Alexander, Kovasala, Michael, Bademci, Guney, Tekin, Mustafa, Arnos, Kathleen S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196463/
https://www.ncbi.nlm.nih.gov/pubmed/32067424
http://dx.doi.org/10.1002/mgg3.1171

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196463/
https://www.ncbi.nlm.nih.gov/pubmed/32067424
http://dx.doi.org/10.1002/mgg3.1171

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