大前庭水管综合征患者的SLC26A4基因诊断
梁爽;王树峰;
1:中国聋儿康复研究中心
摘要关键词基金项目(Foundation):作者参考文献1 Li CX,Pan Q,Guo YG,et al.Construction of a multiplex al-lele-specific PCR-based universal array(ASPUA)and its application to hearing loss screening[J].Human Mutation,2008,29:306.
2 Ma X,Yang Y,Xia M,et al.Computed tomography findings in large vestibular aqueduct syndrome[J].Acta Otolaryngol,2009,129:700.
3张迪,路虹,徐鸥,等.磁共振内耳水成像在大前庭水管综合征诊断中的应用[J].临床耳鼻咽喉科杂志,2006,20:13.
4刘中林,李志欣.前庭导水管扩大的CT表现(附72例报告)[J].临床放射学杂志,1998,17:77.
5万良财,郭梦和,谢南屏,等.76例大前庭水管综合征患者的临床诊治分析[J].临床耳鼻咽喉头颈外科杂志,2009,23:594.
6 Coucke PJ,Van Hauwe P,Everett LA,et al.Identification of two different mutations in the PD S gene in an inbred family with Pendred syndrome[J].J Med G enet,1999,36:475.
7 Coyle B,Reardon W,Herbrick JA,et al.Molecular analysis of the PDS gene in Pendred syndrome(sensorineural hearing loss and goitre)[J].Human Molecular Genetics,1998,7: