Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia

Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder characterized by abnormal ciliary motion, due to a defect in ciliary structure and/or function. This genetic condition leads to recurrent upper and lower respiratory infections, bronchiectasis, laterality defect, and subfe...

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Detalles Bibliográficos
Autores principales: Luongo, Francesca Paola, Luddi, Alice, Ponchia, Rosetta, Ferrante, Rossella, Di Rado, Sara, Paccagnini, Eugenio, Gentile, Mariangela, Lupetti, Pietro, Guazzo, Raffaella, Orrico, Alfredo, Stuppia, Liborio, Piomboni, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908957/
https://www.ncbi.nlm.nih.gov/pubmed/36777727
http://dx.doi.org/10.3389/fgene.2023.1062326

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