1) keratitis ichthyosis and deafness syndrome
角膜炎·鱼鳞病·耳聋综合征
1.
Objective To report a case of keratitis ichthyosis and deafness syndrome (KID syndrome).
目的 报告1例角膜炎·鱼鳞病·耳聋综合征(Keratitis ichthyosis anddeafnes s syndrome,KID syndrome)。
2) keratitis,ichthyosis,and deafness (KID)
角膜炎，鱼鳞癣与聋症
3) Ichthyosis syndrome
鱼鳞病综合征
1.
Ichthyosis syndrome is a series of genodermatoses clinically manifested by ichthyosiform lesions.
鱼鳞病综合征是一组皮肤症状表现为鱼鳞病样损害的遗传性疾病,大部分由于基因突变引起。
4) Syndromic deafness
综合征型耳聋
1.
Infrequent X chromosome abnormality and X-linked syndromic deafness;
一种罕见X染色体改变与X连锁综合征型耳聋的关系
5) Nonsyndromic hearing impairment
非综合征性耳聋
1.
Mutation analysis of GJB2 gene in nonsyndromic hearing impairment patients from Northeastern China;
中国东北地区非综合征性耳聋患者GJB2基因的致聋突变分析
2.
Gene mapping of a nonsyndromic hearing impairment family;
非综合征性耳聋一家系的基因定位
6) nonsyndromic hearing loss
非综合征型耳聋
1.
Mutation analysis of12S rRNA andtRNA-Ser ~((UCN)) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage;
近亲结婚所致非综合征型耳聋家系的线粒体基因突变分析
2.
In order to investigate the possible role of mitochondrial DNA mutations in NSHL, we analyze the incidence, character of three types of mitochondrial DNA mutations in the nonsyndromic hearing loss (NSHL) patients and their clinical data, healthy control subjects were also analyzed simultaneously.
分析非综合征型耳聋患者(nonsyndromic hearing loss, NSHL)及健康体检者中3种线粒体DNA(mitochondrial DNA, mtDNA)突变的发生频率、性质及临床资料特点,探讨线粒体DNA突变与非综合征型耳聋的关系。
补充资料：干燥角膜结膜炎综合征
干燥角膜结膜炎综合征
即"斯耶格伦综合征"。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条