MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review
This case represents an exceptionally rare instance of MYRF-CUGS combined with coronary artery anomaly. This case report enriches the clinical phenotype spectrum of CUGS caused by MYRF gene mutations and improves recognition among clinicians.
Authors
- Jianhua Ding (ORCID: https://orcid.org/0000-0002-0858-1941)
- Zhen Zhen (ORCID: https://orcid.org/0000-0001-9281-4260)
- Yanyan Xiao (ORCID: https://orcid.org/0000-0002-2334-2754)
- Zhenyu Lv (ORCID: https://orcid.org/0009-0004-7410-0474)
- Yong Gai
Institutions
- Kaifeng City Children's Hospital (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-08-16
- DOI
- https://doi.org/10.1186/s12887-025-05853-9
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.81