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Article

Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.

Genetic testing - 1 Sept 2008

Khetyar Maher, Syrris Petros, Tinworth Lorna, Abushaban Lulu, Carter Nicholas

Abstract excerpt

Mutations in the gene encoding the TFAP2B transcription factor can cause Char syndrome with cardiac, craniofacial, and hand abnormalities. However, TFAP2B mutations result in great phenotypic variability, which is believed to reflect different expression patterns of tissue-specific TFAP2 coactivators. We investigated a consanguineous family with isolated patent ductus arteriosus (PDA) for mutations in TFAP2B. Our...

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Source

Identifiers

PMID: 18752453
DOI: 10.1089/gte.2008.0015

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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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