患有GJB2基因突变的患者的听力和听力损失进展:长期随访

Aki Sakata1, Akinori Kashio1, Misaki Koyama1

  • 1Department of Otolaryngology and Head and Neck Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8654, Japan.

概括

针对GJB2突变的基因测试可以帮助预测听力损失水平,例如p.Arg143Trp等特定基因型与严重听力损失有关. 长期监测对于检测听力损失的进展至关重要,特别是在250 Hz和4000 Hz.

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