在患有先天性甲状腺功能低下症的患者中常见和罕见的DUOX变体:病例对照研究和基于家庭的分析

Yaning Jia1,2, Xiaoyu Wang1,2,3, Liqin Zhang4

  • 1Medical Genetics Department, The Affiliated Hospital of Qingdao University, Qingdao 266071, China.

概括

罕见和常见的双氧化酶 (DUOX) 基因变异与先天性甲状腺功能低下症 (CH) 有关. 这些DUOX变异,以自身相性衰退模式遗传,为CH的发展和管理提供了新的见解.

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