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.
Article
Dans Chinois
| WPRIM
| ID: wpr-344143
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Thérapeutique
/
Maladies génétiques liées au chromosome X
/
Recherche génétique
/
Diagnostic
/
Génétique
/
Perte d'audition
/
Biologie moléculaire
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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