PlumX Metrics
Embed PlumX Metrics

Characterization of transcription factor AP-2 beta mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency

Journal of Surgical Research, ISSN: 0022-4804, Vol: 188, Issue: 2, Page: 466-472
2014
  • 7
    Citations
  • 0
    Usage
  • 18
    Captures
  • 0
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

Article Description

Patent ductus arteriosus (PDA) is one of the most common congenital heart defects. Transcription factor AP-2 beta (TFAP2B) mutations are associated with the Char syndrome, a disorder associated with PDA, and with facial and fingers abnormalities. Recently, we identified two TFAP2B mutations in two families without Char syndrome phenotype, c.601+5G>A and c.435_438delCCGG, and these TFAP2B mutations were associated with familial isolated PDA. The aim of this study was to identify the effects of these mutations on TFAP2B function.

Provide Feedback

Have ideas for a new metric? Would you like to see something else here?Let us know