X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report
This case underscores that meticulous physical examination combined with genetic analysis is critical for diagnosing CDPX2. Early identification of EBP mutations enables accurate prenatal counseling and risk assessment for future pregnancies.
Authors
- Yongjiang Jiang (ORCID: https://orcid.org/0000-0003-1292-326X)
- Yueju Cai (ORCID: https://orcid.org/0000-0001-5666-1201)
- Xiaoping Shi (ORCID: https://orcid.org/0000-0003-2635-6649)
- Pianpian Pan
- Yanxing Lv
Institutions
- Liuzhou Maternal and Child Health Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1097/md.0000000000042086
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00