:DNAH11

Lorin-Manuel Pîrlog1, Andrada-Adelaida Pătrăşcanu1, Eniko Kutasi1

  • 1Department of Molecular Sciences, Faculty of Medicine, Iuliu Haţieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

概括

初级状动力障碍 (PCD) 是一种罕见的遗传疾病,影响状动力. 在一个病人身上发现了新的DNAH11基因变异,突显了PCD诊断的复杂性和需要先进的遗传测试.