Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children
PAX2 variants exhibit significant clinical diversity, and our findings further expand the genotype-phenotype spectrum of PAX2-related disorder. The variable efficacy of ACEIs highlights the importance of personalized evaluation and treatment strategies and extended follow-up periods in the future.
Authors
- Lan Mi
- Yuehong Shen (ORCID: https://orcid.org/0000-0001-8080-7039)
- Jie Min (ORCID: https://orcid.org/0000-0002-2144-6066)
- Hui Wang (ORCID: https://orcid.org/0000-0002-7639-5702)
- Xiaona Sun
- Yulin Luo
- Qian Fu
Institutions
- Capital Medical University (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- European journal of medical research
- Published
- 2025-04-15
- DOI
- https://doi.org/10.1186/s40001-025-02522-6
- Citations
- 2
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Natural Science Foundation of Hebei Province