病例报告:一个病例的hypoparathyroidism-传感神经耳聋-功能障碍综合征

Jinyan Yang1, Yanjie Mei1, Feifei Tang1

  • 1Department of Endocrinology, Bozhou People's Hospital, Anhui Province, China.

PubMed
概括

这项案例研究突出了一个年轻女性的下甲状腺症-感官神经失聪-功能障碍 (HDR) 综合征. 基因分析揭示了GATA3变体,强调用维生素D进行个性化治疗,以控制波动的水平.

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