syndromic hearing loss

基本解释

Objective To identify the pathogenic gene for a non-syndromic hearing loss family.
目的确定一个非综合征型耳聋家系的致病基因。
OBJECTIVE To investigate whether the KCNN4 gene and KPTN gene contribute to a Chinese non-syndromic hearing loss pedigree linked to DFNA4 with positional candidate approach.
目的应用位置候选基因法了解中国DFNA4型耳聋家系定位区域内的两个基因KCNN4、KPTN与该家系耳聋表型的相关性。
Objective To investigate if the KCNQ4 gene contributes to a Chinese non-syndromic hearing loss pedigree and to detect the gene mutations in the pedigree using candidate approach.
目的应用候选基因法了解KCNQ4基因对中国耳聋家系的影响，检测其突变形式。