巴拉卡特综合征是什么意思
Vnitrni lekarstvi
|July 19, 2023
概括
巴拉卡特综合征 (HDR综合征) 是一种罕见的遗传疾病,影响甲状腺功能低下,聋和功能. 这份病例报告详细介绍了一名患有下甲状腺功能障碍,单侧聋和功能障碍的患者.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 腎臟病學 (nephrology) 是一種醫學.
背景情况:
- 巴拉卡特综合征,也称为HDR综合征,是一种罕见的,自体组主导遗传疾病.
- 它的特点是下甲状腺症 (H),聋 (D) 和病 (R) 的可变三位一体.
- 主要原因是GATA3基因的突变或染色体10p14上的缺失.
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