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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Detalles Bibliográficos
Autores principales: Abe, Satoko, Nishio, Shin‐ya, Yokota, Yoh, Moteki, Hideaki, Kumakawa, Kozo, Usami, Shin‐ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230644/
https://www.ncbi.nlm.nih.gov/pubmed/30455902
http://dx.doi.org/10.1002/ccr3.1800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230644/
https://www.ncbi.nlm.nih.gov/pubmed/30455902
http://dx.doi.org/10.1002/ccr3.1800

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