Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis
Our study is the first to report a <i>DMD</i> exons 48-55 deletion in prenatal diagnosis. The phenotypes of <i>DMD</i> variants are diverse, and this study suggests that prediction of clinical severity based solely on molecular findings should be interpreted with caution.
Authors
- Meihuan Chen (ORCID: https://orcid.org/0000-0002-7356-8751)
- Danhua Guo
- Meiying Cai (ORCID: https://orcid.org/0000-0002-7431-2475)
- Liangpu Xu (ORCID: https://orcid.org/0000-0001-8815-2735)
- Hailong Huang
- Zhaodong Lin
- Bin Liang (ORCID: https://orcid.org/0000-0001-7659-3349)
- Lingji Chen
- Min Zhang (ORCID: https://orcid.org/0000-0002-2662-1142)
- Bin Mao (ORCID: https://orcid.org/0000-0002-3792-3787)
- Qiaomei Yang
- Qianqian He
Institutions
- Fujian Medical University (CN)
- Fujian Women and Children Hospital (CN)
- Fuzhou General Hospital of Nanjing Military Command (CN)
- Fuzhou Maternity and Child Health Care Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-04-17
- DOI
- https://doi.org/10.3389/fped.2025.1541468
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00