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Case Report: A Novel Homozygous Mutation of Cyclin O Gene Mutation in Primary Ciliary Dyskinesia with Short Stature

BACKGROUND: Primary ciliary dyskinesia (PCD) is a group of autosomal recessive genetic diseases caused by abnormal ciliary ultrastructure and/or function, resulting in reduced ciliary clearance function or other dysfunctions. PCD is one of the causes of recurrent respiratory tract infections in chil...

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Detalles Bibliográficos
Autores principales:	Gong, Dai, Tang, Qiong, Yan, Li-Juan, Ye, Xiao-Min, Yang, Yi-Can, Zou, Li, Ji, Qing, Wen, Xiang-Lan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200132/ https://www.ncbi.nlm.nih.gov/pubmed/37220549 http://dx.doi.org/10.2147/PGPM.S406445

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