A homozygous loss‐of‐function mutation in <i>CEP250</i> is associated with acephalic spermatozoa syndrome in humans
Collectively, CEP250 may represent a novel pathogenic gene for acephalic spermatozoa syndrome in humans, and we provide precise genetic diagnosis and treatment strategies for the patient.
Authors
- Fuxi Zhu (ORCID: https://orcid.org/0000-0001-8543-9028)
- Xiaomin Zha (ORCID: https://orcid.org/0000-0001-6756-4925)
- Yunxia Cao (ORCID: https://orcid.org/0009-0002-5389-1591)
- Yuying Jiao
- Mingfei Xiang
- Kexin Yu
- Zongliu Duan
- Pengcheng Hu (ORCID: https://orcid.org/0000-0002-0356-953X)
- Jingjing Zhang (ORCID: https://orcid.org/0000-0002-7281-7429)
- Yu Wang (ORCID: https://orcid.org/0000-0002-7309-7304)
- Rui Guo (ORCID: https://orcid.org/0000-0002-9799-814X)
- Fengsong Wang (ORCID: https://orcid.org/0000-0003-4664-9617)
- Xiaoya Zhu
- Na Zheng (ORCID: https://orcid.org/0009-0001-1256-2321)
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Anhui Medical University (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
- Second Affiliated Hospital of Anhui Medical University (CN)
Publication Details
- Journal
- Andrology
- Published
- 2024-12-26
- DOI
- https://doi.org/10.1111/andr.13827
- Citations
- 3
- Primary Topic
- Sperm and Testicular Function
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Natural Science Foundation of China
- Anhui Medical University
- Chinese Academy of Medical Sciences