非综合征型耳聋 NSHL ; Nonsyndromic hearing loss ; non-syndromic inheritedhearing loss ; nonsydromic hearing impairment
非综合征性耳聋 nonsyndromic hearing impairment ; Nonsyndromic hearing loss ; NSHL
和非综合征性耳聋 nonsyndromic hearing loss ; nonsyndromic hearing impairment ; NSHL
为非综合征性耳聋 nonsyndromic hearing impairment ; NSHI
为非综合征型耳聋 nonsyndromic hearing loss ; NSHL
和非综合征型耳聋 nonsydromic hearing impairment ; NSHI
分析非综合征型耳聋 Nonsyndromic hearing loss ; NSHL
分为非综合征性耳聋 nonsyndromic hearing impairment
可分为非综合征型耳聋 Non-syndromic HHL ; NSHHL
目的探讨母系遗传性非综合征性耳聋的听力学特征及分子遗传学机制。
Objective To explore audiological features of matrilineal non syndromic deafness and its molecular mechanism.
结论GJB2突变是导致学语前聋的主要原因,28.6%的学语前隐性和18.9%学语前散发非综合征性耳聋病人携带了两个GJB2突变。
Conclusion the mutations in GJB2 are the major cause of prelingual deafness; two causative mutations can be found in (28.6%) prelingual recessive and in (18.9%) prelingual sporadic NSHL patients.
目的确定一个非综合征型耳聋家系的致病基因。
Objective To identify the pathogenic gene for a non-syndromic hearing loss family.
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