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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Clin Case Rep
Päätekijät: Abe, Satoko, Nishio, Shin‐ya, Yokota, Yoh, Moteki, Hideaki, Kumakawa, Kozo, Usami, Shin‐ichi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2018
Aiheet:
Case Reports
Linkit: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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