An X-linked PLXNB3 mutation identified in patients with congenital heart disease with neurodevelopmental disabilities

• Published in: Translational pediatrics Vol. 11; no. 11; pp. 1852 - 1863
• Main Authors: Feng, Zhiyu, Chen, Xinyuan, Li, Ting, Gao, Han, Chen, Weicheng, Gao, Yuan, Yao, Qinyu, Zhuang, Quannan, Ma, Xiaojing, Sheng, Wei, Xie, Yuquan, Huang, Guoying
• Format: Journal Article
• Language: English
• Published: China AME Publishing Company 01.11.2022
• Subjects: Original; PLXNB3; PLXNB3 mutations; Congenital heart disease (CHD); neurodevelopmental disability (NDD)

Congenital heart disease (CHD) is the most common birth defect and is often accompanied by neurodevelopmental disabilities (NDD) which increase the associated mortality. Plexin families are known to play a key role in the development of heart and the occurrence of neurodevelopmental anomalies. Howev...