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Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus

Khetyar, M; Syrris, P; Tinworth, L; Abushaban, L; Carter, N; (2008) Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. GENET TEST , 12 (3) 457 - 459. 10.1089/gte.2008.0015.

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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 study suggests that a novel splicing mutation in TFAP2B can cause isolated PDA without other clinical features.

Type: Article
Title: Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus
DOI: 10.1089/gte.2008.0015
UCL classification: UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
URI: http://discovery.ucl.ac.uk/id/eprint/82058
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