Human genetics of truncus arteriosus

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Human genetic studies have revealed that truncus arteriosus is highly associated with 22q11.2 deletion syndrome. Other congenital malformation syndromes and mutations in genes encoding NKX and GATA transcription factors have also been reported as its etiology.

Original languageEnglish
Title of host publicationCongenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways
PublisherSpringer-Verlag Wien
Pages559-568
Number of pages10
ISBN (Electronic)9783709118832
ISBN (Print)9783709118825
DOIs
Publication statusPublished - 2015 Jan 1

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Keywords

  • 22q11.2 deletion syndrome
  • ASD
  • CHARGE syndrome
  • CHD7
  • Diabetic mother
  • DiGeorge syndrome
  • GATA transcription factors
  • GATA4
  • GATA5
  • GATA6
  • Neural crest cells
  • NKX2-5
  • NKX2-6
  • PLXNA2
  • Second heart field
  • SEMA3C
  • TBX1
  • Tetralogy of Fallot
  • TOF
  • Truncus arteriosus
  • VACTERL syndrome
  • VSD

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Yamagishi, H. (2015). Human genetics of truncus arteriosus. In Congenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways (pp. 559-568). Springer-Verlag Wien. https://doi.org/10.1007/978-3-7091-1883-2_47