Multilocus pathogenic variants in MCM4, RYR1, and G6PD identified by trio-based whole-exome sequencing in a neonate with multisystem symptoms: a case report
This case highlights the potential for blended phenotypes caused by multilocus variation and underscores the diagnostic value of trio-WES in neonates with unexplained multisystem involvement. Long-term follow-up and multidisciplinary management remain essential for such patients.
Authors
- Chuanguang Wang
- Yijing Shen
- Fang Zheng (ORCID: https://orcid.org/0000-0002-2024-2424)
- Jinglin Yang
- Kailai Zhu
- Heng Zhang
- Sufang Yang
- Ying Yi
Institutions
- Lishui Central Hospital (CN)
Publication Details
- Journal
- AME Case Reports
- Published
- 2026-01-01
- DOI
- https://doi.org/10.21037/acr-2025-131
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00