Identification and Functional Characterization of a Novel <i>SOX4</i> Mutation Predisposing to Coffin–Siris Syndromic Congenital Heart Disease

Identification and Functional Characterization of a Novel <i>SOX4</i> Mutation Predisposing to Coffin–Siris Syndromic Congenital Heart Disease

<b>Background/Objectives:</b> Congenital heart disease (CHD) occurs in ~1% of all live neonates globally, rendering it the most prevalent developmental anomaly affecting humans; this condition confers substantial infant morbidity and mortality worldwide. Although there is ample evidence...

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Main Authors: Zi Yan, Bin-Bin Dong, Yan-Jie Li, Chen-Xi Yang, Ying-Jia Xu, Ri-Tai Huang, Xing-Yuan Liu, Yi-Qing Yang
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Children
Subjects:
congenital heart disease
patent ductus arteriosus
transcription regulation
human molecular genetics
SOX4
biological assay
Online Access:https://www.mdpi.com/2227-9067/12/5/608
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