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Article

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

Human genetics - 1 Mar 2017

Hempel Maja, Casar Tena Teresa, Diehl Thilo, Burczyk Martina S, Strom Tim M, Kubisch Christian, Philipp Melanie, Lessel Davor

Abstract excerpt

GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have implicated a role of GATA5 during mammalian embryogenesis, including proper heart development and gender-specific regulation of female genitourinary tract formation. Previous studies have found an association of heterozygous missense alterations in GATA5...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28180938
DOI: 10.1007/s00439-017-1762-2

Genes

GATA5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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