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Article

A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.

G3 (Bethesda, Md.) - 7 Apr 2016

Sun Yu-Min, Wang Jun, Qiu Xing-Biao, Yuan Fang, Li Ruo-Gu, Xu Ying-Jia, Qu Xin-Kai, Shi Hong-Yu, Hou Xu-Min, Huang Ri-Tai, Xue Song, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD) is the most common developmental abnormality, and is the leading noninfectious cause of mortality in neonates. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD. However, CHD exhibits substantial heterogeneity, and the genetic determinants for CHD remain unknown in the overwhelming majority of cases. In the current study, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26865696
DOI: 10.1534/g3.115.026518
PMCID: PMC4825666

Genes

HAND2
GATA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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