Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis
This study identified several novel variants, broadening the variant spectrum of 46,XX-CGD. 46,XX-CGD is a genetically heterogeneous condition, and WES is a powerful tool for determining its genetic etiology. The results of this study will aid researchers and clinicians in genetic counseling and suggest that WES is valuable for detecting 46,XX-CGD, which may lead to early interventions for patients.
Authors
- Shan Deng (ORCID: https://orcid.org/0000-0002-4380-5779)
- Duoduo Zhang (ORCID: https://orcid.org/0009-0008-4112-4145)
- Leilei Ding (ORCID: https://orcid.org/0000-0001-8764-309X)
- Qinjie Tian (ORCID: https://orcid.org/0000-0002-7461-4203)
- Pan Zhang (ORCID: https://orcid.org/0000-0001-8778-4079)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Reproductive Biology and Endocrinology
- Published
- 2024-11-11
- DOI
- https://doi.org/10.1186/s12958-024-01309-4
- Citations
- 1
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Peking Union Medical College Hospital
- Peking Union Medical College