Familial cardiac septal defect due to a novel nine-base deletion in TBX20

Pediatr Int. 2022 Jan;64(1):e14995. doi: 10.1111/ped.14995.
No abstract available

Keywords: TBX20; cardiac septal defect; congenital heart disease; deletion; whole exome sequencing.

MeSH terms

  • Heart Septal Defects*
  • Heart Septal Defects, Atrial* / diagnosis
  • Heart Septal Defects, Atrial* / genetics
  • Humans
  • Mutation
  • T-Box Domain Proteins / genetics

Substances

  • T-Box Domain Proteins
  • TBX20 protein, human