Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.
Clin Case Rep
; 6(11): 2111-2116, 2018 Nov.
Article
en En
| MEDLINE
| ID: mdl-30455902
ABSTRACT
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.
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Banco de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Clin Case Rep
Año:
2018
Tipo del documento:
Article