Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect

Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect

BackgroundCongenital heart defects (CHDs) represent the leading cause of neonatal mortality among congenital abnormalities. Genetic factors, such as EVC2 gene mutations and other genetic alterations, constitute a major cause of CHD. Thus, determining the genetic etiology of fetal CHDs is crucial for...

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Bibliographic Details
Main Authors: Xiayuan Xu, Chengcheng Gao, Keqin Jin, Liping Zhang, Yanfen Yang, Jun Zhang, Yun Ye, Shuangshuang Shen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Pediatrics
Subjects:
congenital heart defect
fetus
neonate
EVC2
Ellis–van Creveld syndrome
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1352571/full
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