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Mutations in CCNO Result in Primary Ciliary Dyskinesia Complicated with Diffuse Bronchiolitis. 2023

Li-Na Wang, and Li-Wei Gao, and Xiu-Yun Liu, and Bao-Ping Xu
Department of Respiratory Medicine, National Clinical Research Center of Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56 Nan Li Shi Road, Xicheng District, Beijing, 100045, China.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D001988 Bronchiolitis Inflammation of the BRONCHIOLES. Bronchiolitides
D002925 Ciliary Motility Disorders Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. Ciliary Dyskinesia,Ciliary Dyskinesia, Primary,Immotile Cilia Syndrome,Primary Ciliary Dyskinesia,Ciliary Dyskinesias,Ciliary Motility Disorder,Disorder, Ciliary Motility,Dyskinesia, Ciliary,Dyskinesia, Primary Ciliary,Immotile Cilia Syndromes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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