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Article

Exome sequencing reveals novel IRXI mutation in congenital heart disease.

Molecular medicine reports - 1 May 2017

Guo Changlong, Wang Qidi, Wang Yuting, Yang Liping, Luo Haiyan, Cao Xiao Fang, An Lisha, Qiu Yue, Du Meng, Ma Xu, Li Hui, Lu Cailing

Abstract excerpt

Genetic variation in specific transcription factors during heart formation may lead to congenital heart disease (CHD) or even miscarriage. The aim of the present study was to identify CHD‑associated genes using next generation sequencing (NGS). The whole exome DNA sequence was obtained from a stillborn fetus diagnosed with tricuspid atresia and complete transposition of the great arteries using high‑throughput...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28358424
DOI: 10.3892/mmr.2017.6410

Genes

IRX1
EGF

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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