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DOAJ Open Access 2018

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

Satoko Abe Shin‐ya Nishio Yoh Yokota Hideaki Moteki Kozo Kumakawa +1 lainnya
Lihat Sumber DOI

Abstrak

Key Clinical Message 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 improvements in GJB2 screening.

Topik & Kata Kunci

Medicine Medicine (General)

Penulis (6)

S

Satoko Abe

S

Shin‐ya Nishio

Y

Yoh Yokota

H

Hideaki Moteki

K

Kozo Kumakawa

S

Shin‐ichi Usami

Format Sitasi

APA MLA BibTeX
Abe, S., Nishio, S., Yokota, Y., Moteki, H., Kumakawa, K., Usami, S. (2018). Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss. https://doi.org/10.1002/ccr3.1800

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Informasi Jurnal
Tahun Terbit
2018
Sumber Database
DOAJ
DOI
10.1002/ccr3.1800
Akses
Open Access ✓