一个Pendred综合征家系的临床及SLC26A4基因检测分析
Clinical and Molecular Diagnosis in a Big Chinese Family with Pendred Syndrome
陶峥;柴永川;李磊;李晓华;杨涛;吴皓;
1:上海交通大学医学院附属上海儿童医学中心耳鼻咽喉科
2:上海交通大学医学院附属新华医院耳鼻咽喉-头颈外科
3:上海交通大学耳科学研究所
摘要关键词基金项目(Foundation):作者参考文献1 Everett LA,Glaser B,Beck JC,et al.Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS)[J].Nat Genet Dec,1997,17:411.
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