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Article

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

The Journal of surgical research - 15 May 2014

Ji Wei, Benson Matthew A, Bhattacharya Shoumo, Chen Yiwei, Hu Jingjing, Li Fen

Abstract excerpt

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...

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Identifiers

PMID: 24507797
DOI: 10.1016/j.jss.2014.01.015
PMCID: PMC4594773

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CITED2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.PMID 24507797Read ↗

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