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Updated: Jul 11, 2025

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两种新型NKX2-1位变异的功能特征,这些变异会导致肺表面活性剂功能障碍

Huixian Wang1, Gaoli Jiang1, Dan Dai1

  • 1Division of Pulmonary Medicine, Children's Hospital of Fudan University, Shanghai, China.

Pediatric research
|November 7, 2023
PubMed
概括

在患有肺表面活性剂功能障碍的儿童中发现了两种新的NKX2-1位变异. 试验室研究揭示了不同的致病机制,部分解释了这些罕见遗传疾病的表型差异.

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