A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility
Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or struc...
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| Principais autores: | , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Serier: | Asian Journal of Andrology |
| Fag: | |
| Online adgang: | https://journals.lww.com/10.4103/aja202477 |
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