A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient
This study expands the known genetic spectrum of Non-syndromic congenital nail disorder type 4 and enhances the understanding of phenotypic characteristics associated with <i>RSPO4</i> variants. The findings have potential implications for improving variant-based screening, genetic diagnostics, and molecular insights into <i>RSPO4</i>-related disorders.
Authors
- S Zhang
- Qi Yang (ORCID: https://orcid.org/0000-0003-1899-0586)
- Qiang Zhang (ORCID: https://orcid.org/0000-0002-2707-0258)
- Xunzhao Zhou
- Jingsi Luo
Institutions
- Sheng Jing Hospital (CN)
- Guangxi Maternal and Child Health Hospital (CN)
- China Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-06-20
- DOI
- https://doi.org/10.3389/fped.2025.1592954
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Guangxi Zhuang Region Health Department