Article
Functional analysis of novel MMP21 gene compound heterozygous mutations in a prenatal case with heterotaxy.
Human molecular genetics - 3 Sept 2025
Chen Quan, Zhang Hao, Li Xue, Liu Lin, Hu Zhiqing, Xu Zhihong
Abstract excerpt
BACKGROUND: Heterotaxy is a class of congenital disorders resulting from failure to establish normal left-right asymmetry during embryonic development, which causes abnormal positioning and morphology of the thoraco-abdominal organs. The pathogenesis of heterotaxy is multifactorial and involves both genetic and environmental factors. With the application of whole exome sequencing (WES), pathogenic biallelic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.