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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
sperm immotility
axoneme
ccdc103
nasal cilia
dynein arms
infertility
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1062326/full

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