Congenital heart disease caused by mutations in the transcription factor NKX2-5.

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    • Abstract:
      Reports on mutations in the gene encoding the homeobox transcription factor NKX2-5 that were found to cause nonsyndromic, human congenital heart disease. Three different NKX2-5 mutations that were identified; Indications of data that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life.