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 language | English |
|---|---|
| Title of host publication | Congenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways |
| Publisher | Springer-Verlag Wien |
| Pages | 559-568 |
| Number of pages | 10 |
| ISBN (Electronic) | 9783709118832 |
| ISBN (Print) | 9783709118825 |
| DOIs | |
| Publication status | Published - 2015 Jan 1 |
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)
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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