原发性睫状体运动障碍
纤毛
生物
表现力
遗传学
卡塔格综合征
气道
细胞生物学
解剖
内科学
肺
医学
麻醉
支气管扩张
作者
Lucie Thomas,Laurence Cuisset,Jean‐François Papon,Aline Tamalet,Isabelle Pin,Rola Abou Taam,Catherine Faucon,Guy Montantin,S. Tissier,Philippe Duquesnoy,F. Moal,Bruno Copin,Nathalie Carion,Bruno Louis,Sandra Chantot‐Bastaraud,Jean‐Pierre Siffroi,Rana Mitri,A. Coste,Estelle Escudier,Guillaume Thouvenin
标识
DOI:10.1136/jmg-2023-109700
摘要
Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked
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