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

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 mutatio...

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Detalhes bibliográficos
Main Authors: Ji, W, Benson, M, Bhattacharya, S, Chen, Y, Hu, J, Li, F
Formato: Journal article
Idioma:English
Publicado em: Academic Press Inc. 2014