Compound Heterozygous Loss‐of‐Function Variants in CCM2L in a Fetus With Tetralogy of Fallot

ABSTRACT Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited. Methods Whole exome sequencing (WES) and Sanger sequencing were applied to a family trio diagnosed with TOF by fetal pren...

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Bibliographic Details
Main Authors: Dandan Ling, Wanqin Xie, Xiao Mao, Zhiyu Liu, Yabing Tang, Fanjuan Kong
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Molecular Genetics & Genomic Medicine
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Online Access:https://doi.org/10.1002/mgg3.70117
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