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Article

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

Clinical genetics - 1 Dec 2010

Stallmeyer B, Fenge H, Nowak-Göttl U, Schulze-Bahr E

Abstract excerpt

Heterozygous mutations in the human transcription factor gene NKX2.5 are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect-II (ASD-II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF). Thus, NKX2.5 has an important role at different stages of cardiac development. The frequency of NKX2.5 mutations in a broader phenotypic spectrum of CHD...

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Share to Heart Defects, Congenital
Share to Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Ventricular

Share to Homeobox Protein Nkx-2.5

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Source

Identifiers

PMID: 20456451
DOI: 10.1111/j.1399-0004.2010.01422.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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