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Updated: Jun 30, 2025

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在DNAH5基因中,囊性肺部变化,支气管切除症和异合体-初级状腺失动症相关变异:一个诊断挑战

Manal Albalawi1, Abdullah Al-Shamrani2,3, Ahmed Sarar Mohamed4

  • 1Department of Pediatrics, College of Medicine, Tabuk University (TU), Tabuk, Saudi Arabia.

The American journal of case reports
|March 24, 2024
PubMed
概括

初级状动力障碍 (PCD) 是一种罕见的遗传性疾病,常常呈现出各种症状,并且可能被误诊. 基因检测发现了DNAH5基因变异,但在这个具有挑战性的案例中,需要进一步分析才能确定PCD诊断.

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