Novel CYCLIN‐O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

Novel CYCLIN‐O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

Abstract Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with CYCLIN‐O (CCNO) mutations. We report a novel compound mutation in the CCNO gene in an adult Chinese Singaporean exhibiting chronic productive cough since childho...

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Bibliographic Details
Main Authors: Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker‐Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:Respirology Case Reports
Subjects:
bronchiectasis
CCNO
mucociliary disorder
primary ciliary dyskinesia
RGMC
Online Access:https://doi.org/10.1002/rcr2.70057
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https://doi.org/10.1002/rcr2.70057

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