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Article

A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot.

International journal of molecular medicine - 1 Feb 2016

Lu Cai-Xia, Gong Hai-Rong, Liu Xing-Yuan, Wang Juan, Zhao Cui-Mei, Huang Ri-Tai, Xue Song, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD), the most common type of developmental abnormality, is associated with substantial morbidity and mortality in humans worldwide. The basic helix-loop-helix transcription factor, heart and neural crest derivatives expressed 2 (HAND2), has been demonstrated to be crucial for normal cardiovascular development in animal models. However, whether a genetically defective HAND2 contributes...

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Source

Identifiers

PMID: 26676105
DOI: 10.3892/ijmm.2015.2436

Genes

HAND2
GATA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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