Progress of common gene mutations and detection methods of non-syndromic inherited hearing impair-ment / 国际儿科学杂志
International Journal of Pediatrics
; (6): 109-112,118, 2016.
Article
en Zh
| WPRIM
| ID: wpr-603251
Biblioteca responsable:
WPRO
ABSTRACT
Deafness is a seriously disabling disease affecting the quality of human life and genetic fac-tors account for a large proportion in the pathogenesis of newborn deafness.With the development of genomics technology,molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. Molecular diagnostic technique plays an important role in exploring the pathogenesis,assisting clinical diagnosis and the prenatal diagnosis.In this review,we introduce the common pathogenic gene mutations and the diagnosis of non-syndromic inherited hearing impairment.
Texto completo:
1
Base de datos:
WPRIM
Tipo de estudio:
Diagnostic_studies
Idioma:
Zh
Revista:
International Journal of Pediatrics
Año:
2016
Tipo del documento:
Article