Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect
Our study expands the genotypic and phenotypic spectra of <i>the EVC</i>2 gene. We recommend including the <i>EVC</i>2 gene in preconception carrier screening and prenatal diagnosis for CHDs.
Authors
- Xiayuan Xu
- Keqin Jin (ORCID: https://orcid.org/0000-0003-4309-4791)
- Shuangshuang Shen (ORCID: https://orcid.org/0009-0004-9063-0184)
- Jun Zhang (ORCID: https://orcid.org/0000-0003-1739-6462)
- Chengcheng Gao
- Yanfen Yang
- Yun Ye
- Liping Zhang (ORCID: https://orcid.org/0000-0003-3933-2478)
Institutions
- Dian Diagnostics (China) (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-07-14
- DOI
- https://doi.org/10.3389/fped.2025.1352571
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00