Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing
The N-ZF domain may play an exclusive role in the mechanism of GATA4 in the pathogenesis of 46,XY GD; therefore, this domain may be an interesting topic for future investigation. This study enhances our understanding of the genetic etiology and pathogenesis of 46,XY GD, which may aid in the diagnosis and intervention of this disorder.
Authors
- Jingjing Guo (ORCID: https://orcid.org/0000-0002-8962-0980)
- Ning Zhang (ORCID: https://orcid.org/0000-0002-5634-4203)
- Keqin Hua
- Xingyu Chang (ORCID: https://orcid.org/0000-0002-7403-1956)
- Shuoming You
- Junjun Qiu (ORCID: https://orcid.org/0000-0002-2063-2684)
Institutions
- Guangzhou Development Zone Hospital (CN)
- State Key Laboratory of Oncogene and Related Genes (CN)
- Obstetrics and Gynecology Hospital of Fudan University (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-04-11
- DOI
- https://doi.org/10.3389/fendo.2025.1560698
- Citations
- 2
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Shanghai Municipal Health Commission
- Science and Technology Commission of Shanghai Municipality