- Abstract:
-
BACKGROUND: 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1016/j.jss.2014.01.015
-
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- Journal:
- The Journal of surgical research
- Volume:
- 188
- Issue:
- 2
- Pages:
- 466-472
- Publication date:
- 2014-05-05
- DOI:
- EISSN:
-
1095-8673
- ISSN:
-
0022-4804
- URN:
-
uuid:0146c18f-4d8e-4143-bff0-505bc4862592
- Source identifiers:
-
449186
- Local pid:
- pubs:449186
- Language:
- English
- Keywords:
- Copyright date:
- 2014
Journal article
Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.
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