Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome
A novel pathogenic variant of CdLS is identified, which affects normal mRNA splicing of the <i>NIPBL</i> gene. These findings enrich the knowledge of CdLS gene variants, which may be responsible for developing this rare disease.
Authors
- Y. Chen
- Yu Dai (ORCID: https://orcid.org/0000-0003-3703-6771)
- Liliang Ying (ORCID: https://orcid.org/0000-0002-0974-671X)
- Yaofeng Zhao (ORCID: https://orcid.org/0000-0003-4499-8610)
- Xueping Shao
Institutions
- Jinhua Central Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-09-10
- DOI
- https://doi.org/10.3389/fgene.2025.1665167
- Primary Topic
- Genomics and Chromatin Dynamics
- Type
- article
- Field-Weighted Citation Impact
- 0.00