目的观察角膜炎、鱼鳞病、耳聋综合征的临床表现。
Keratitis, ichthyosis, and deafness syndrome (KID syndrome) is a rare congenital disorder disease.
名为Alport综合征的遗传性肾炎。病人通常表现为神经性耳聋及眼病。
This is a type of hereditary nephritis known as Alport's syndrome in which patients may also manifest nerve deafness and eye problems.
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.
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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