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Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella

Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by mutations of genes coding motile-cilia-related proteins. CCDC40 variants can cause PCD via disrupting the assembling of inner dynein and dynein regulating complex in cilia and flagella, but none has been reported associated with mu...

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Detalles Bibliográficos
Autores principales:	Xu, Yingjie, Yang, Binyi, Lei, Cheng, Yang, Danhui, Ding, Shuizi, Lu, Chenyang, Wang, Lin, Guo, Ting, Wang, Rongchun, Luo, Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017783/ https://www.ncbi.nlm.nih.gov/pubmed/35449766 http://dx.doi.org/10.2147/PGPM.S359821

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