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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Autori principali:	Francesca Paola Luongo, Alice Luddi, Rosetta Ponchia, Rossella Ferrante, Sara Di Rado, Eugenio Paccagnini, Mariangela Gentile, Pietro Lupetti, Raffaella Guazzo, Alfredo Orrico, Liborio Stuppia, Paola Piomboni
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2023-01-01
Serie:	Frontiers in Genetics
Soggetti:	sperm immotility axoneme ccdc103 nasal cilia dynein arms infertility
Accesso online:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1062326/full
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