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Journal article

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

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...

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Publication status:
Published

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Publisher copy:
10.1016/j.jss.2014.01.015

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
Role:
Author
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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

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