Advance in molecular genetic research on X-linked syndromic hearing impairment / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 928-933, 2017.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-344143
Biblioteca responsável:
WPRO
ABSTRACT
In addition to hearing impairment, syndromic hearing impairment is often accompanied by disorders of urinary, skeletal, muscular, nervous, and ocular systems. Genetic factors have shown to play an important role in the pathogenesis of deafness. Mutations of X-linked genes may cause syndromic hearing impairment. Gene mapping, linkage analysis and next-generation sequencing may facilitate delineation of the pathogenesis of X-linked syndromic hearing impairment. This article reviews recent progress in molecular genetic research on X-linked syndromic hearing impairment, which may shed light for the diagnosis and treatment of these diseases.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Terapêutica
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Pesquisa em Genética
/
Diagnóstico
/
Genética
/
Perda Auditiva
/
Biologia Molecular
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo