Suppr超能文献

[X 连锁综合征性听力障碍的分子遗传学研究进展]

[Advance in molecular genetic research on X-linked syndromic hearing impairment].

作者信息

Huang Maomin, Zhang Dingding

机构信息

Department of Immunology, Zunyi Medical University, Zunyi, Guizhou 563000, China. Email:

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):928-933. doi: 10.3760/cma.j.issn.1003-9406.2017.06.033.

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.

摘要

除听力障碍外,综合征性听力障碍常伴有泌尿、骨骼、肌肉、神经和眼部系统疾病。遗传因素在耳聋发病机制中起着重要作用。X连锁基因的突变可能导致综合征性听力障碍。基因定位、连锁分析和新一代测序可能有助于阐明X连锁综合征性听力障碍的发病机制。本文综述了X连锁综合征性听力障碍分子遗传学研究的最新进展,这可能为这些疾病的诊断和治疗提供线索。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验