携带mtDNA12SrRNA基因突变的新生儿听力筛查及诊断结果分析
曲春燕;王璟;申敏;鲁红利;马登科;赵敏;
1:国家儿童医学中心首都医科大学附属北京儿童医院保健中心
2:中国听力语言康复研究中心
3:首都医科大学附属北京妇产医院
4:北京博奥生物有限公司
摘要关键词基金项目(Foundation):作者参考文献1 ACMG.Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss.Genetic evaluation of congenital hearing loss expert panel:ACMG statement[J].Genet Med,2002,4(3):162-171.
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