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Article

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.

American journal of medical genetics. Part A - 15 Jan 2008

Posch Maximilian G, Perrot Andreas, Schmitt Katharina, Mittelhaus Sebastian, Esenwein Eva-Maria, Stiller Brigitte, Geier Christian, Dietz Rainer, Gessner Reinhard, Ozcelik Cemil, Berger Felix

Abstract excerpt

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Topics

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Share to Bone Morphogenetic Protein 4
Share to Bone Morphogenetic Proteins
Share to Cell Adhesion Molecules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to GATA4 Transcription Factor

Share to Heart Septal Defects

Share to Heart Septal Defects, Atrial

Share to Homeobox Protein Nkx-2.5

Source

Identifiers

PMID: 18076106
DOI: 10.1002/ajmg.a.32042

Genes

BMP4
CRELD1
GATA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.PMID 18076106Read ↗

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.Semantic proximity Read ↗

GATA4 mutations in 357 unrelated patients with congenital heart malformation.Semantic proximity Read ↗

NKX2.5 mutations in patients with non-syndromic congenital heart diseaseSemantic proximity Read ↗

Prevalence and spectrum of GATA5 mutations associated with congenital heart diseaseSemantic proximity Read ↗

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.Semantic proximity Read ↗

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerSemantic proximity Read ↗

A De Novo Novel Nonsense Mutation of GATA4 is Responsible for a Patient with Atrial Septal Defect.Semantic proximity Read ↗

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.Semantic proximity Read ↗

Cardiac homeobox gene NKX2-5mutations and congenital heart diseaseSemantic proximity Read ↗

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.Semantic proximity Read ↗

[Genetic screening of Gata4 and Nkx2.5 mutations in hereditary congenital heart defects: 5 familial cases].Semantic proximity Read ↗

A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease.Semantic proximity Read ↗

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