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Article

GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.

Clinical genetics - 1 Sept 2026

Koga Nobuhiko, Katoh-Fukui Yuko, Fukui Sadahiro, Kashimada Kenichi, Fukami Maki

Abstract excerpt

Monoallelic loss-of-function variants of GATA4 have been implicated in congenital heart defects, 46,XY differences of sex development, and congenital diaphragmatic hernia (CDH). However, there is no report of GATA4-variant positive patients who concomitantly exhibited these three features. Furthermore, the genotype-phenotype correlation of GATA4 abnormality remains unclear. Here, we report a 2-year-old boy who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42215426
DOI: 10.1111/cge.70189
PMCID: PMC13432370

Genes

GATA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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