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Article

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Proceedings of the National Academy of Sciences of the United States of America - 22 Feb 2005

Mani Arya, Radhakrishnan Jayaram, Farhi Anita, Carew Khary S, Warnes Carole A, Nelson-Williams Carol, Day Ronald W, Pober Barbara, State Matthew W, Lifton Richard P

Abstract excerpt

Patent ductus arteriosus (PDA) is a common congenital heart disease that results when the ductus arteriosus, a muscular artery, fails to remodel and close after birth. A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor. Established features of the syndrome are PDA, facial dysmorphology, and fifth-finger clinodactyly....

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Identifiers

PMID: 15684060
DOI: 10.1073/pnas.0409852102
PMCID: PMC549488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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