Identification and functional characteristics of CHD1L gene variants implicated in human Müllerian duct anomalies
The current study not only expands the mutational spectrum of CHD1L in MDAs but determines three variants as pathogenic according to ACMG guidelines with reliable functional evidence. Additionally, the impairment in DNA damage repair is an underlying mechanism involved in MDAs.
Authors
- Chunfang Chu
- Chenghong Yin (ORCID: https://orcid.org/0000-0002-2503-3285)
- Shuya Chen (ORCID: https://orcid.org/0000-0001-9979-7408)
- Lin Li (ORCID: https://orcid.org/0000-0002-3597-3350)
- Shenghui Li (ORCID: https://orcid.org/0000-0003-1071-8510)
- Zhi Zheng (ORCID: https://orcid.org/0000-0002-1787-7875)
- Yali Fan
- Yujun Sun
Institutions
- Beijing Obstetrics and Gynecology Hospital (CN)
Publication Details
- Journal
- Biological Research
- Published
- 2024-09-28
- DOI
- https://doi.org/10.1186/s40659-024-00550-w
- Citations
- 4
- Primary Topic
- Gynecological conditions and treatments
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- Capital Medical University
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University