Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Here, we report a novel deletion (copy number variation: CNV) in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact. This partial deletion in the GJB2 gene highlights the need for further improvemen...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Abe, Satoko, Nishio, Shin‐ya, Yokota, Yoh, Moteki, Hideaki, Kumakawa, Kozo, Usami, Shin‐ichi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6230644/
https://ncbi.nlm.nih.gov/pubmed/30455902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1800
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