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Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.

Pediatric cardiology - 1 Oct 2011

Chen Yi-Wei, Zhao Wu, Zhang Zhi-Fang, Fu Qihua, Shen Jie, Zhang Zhen, Ji Wei, Wang Jian, Li Fen

Abstract excerpt

Patent ductus arteriosus (PDA) is a common congenital heart disease that develops soon after birth when the arterial duct does not remodel. Mutations in TFAP2B, which encodes a neural crest-derived transcription factor, can cause Char syndrome, characterized by PDA, facial dysmorphism, and skelet...

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PMID: 21643846
DOI: 10.1007/s00246-011-0024-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21643846-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.PMID 21643846Read ↗

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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.Semantic proximity Read ↗

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Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.Semantic proximity Read ↗

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