概念:遗传性耳聋(Hereditary Hearing Impairment)是指来自父母的遗传物质传递给后代引起听力下降。父母一方或是双方可以是、也可以不是耳聋患者,父母传递给后代的是遗传物质而不...
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nonsyndromic hereditary hearing impairment 非综合征型遗传性听力缺损
Hereditary hearing impairment is caused by genetic defects and is a common clinical disease.
遗传性耳聋由遗传缺陷引起,与基因异常及相关的综合症关系密切,属临床常见疾病。
Hereditary hearing impairment exhibits incredible genetic heterogeneity. It was estimated that several hundred genes associate with hereditary hearing impairment.
遗传性听力损害具有高度的遗传异质性,据估计与几百个基因有关。
Presented in this paper are classification of hereditary hearing impairment and methods to perform probability analysis using features of pathogenic genes and information of pedigree.
简要介绍了遗传性耳聋的分类以及利用致病基因特点和家系信息进行概率分析的方法。
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