[Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella].
This study reported the mutation of FSIP2 gene c.17798C > T, c.5927T > G in a patient with MMAF. These findings expand the mutational spectrum of the FSIP2 gene and provide insights for genetic and assisted reproductive counseling for patients with MMAF.
Authors
- Xi Yang (ORCID: https://orcid.org/0000-0003-0689-1417)
- Shiwei Yang (ORCID: https://orcid.org/0000-0001-7807-0963)
- Yunmin Chen (ORCID: https://orcid.org/0000-0003-3847-2284)
- Lusheng Huang (ORCID: https://orcid.org/0000-0002-6940-667X)
- Lele Xu (ORCID: https://orcid.org/0000-0002-6591-8571)
- Liangyu Yao
- Yi-Bo Dai (ORCID: https://orcid.org/0000-0002-0599-955X)
- Yi Yu (ORCID: https://orcid.org/0000-0002-5247-9186)
- Ke-Rong Wu
- J. Yang (ORCID: https://orcid.org/0000-0002-5984-4262)
Institutions
- Jiangsu Province Hospital (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-05-01
- Primary Topic
- Reproductive Biology and Fertility
- Type
- article
- Field-Weighted Citation Impact
- 0.00