Ontology highlight
ABSTRACT:
SUBMITTER: Kodo K
PROVIDER: S-EPMC2728998 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Kodo Kazuki K Nishizawa Tsutomu T Furutani Michiko M Arai Shoichi S Yamamura Eiji E Joo Kunitaka K Takahashi Takao T Matsuoka Rumiko R Yamagishi Hiroyuki H
Proceedings of the National Academy of Sciences of the United States of America 20090804 33
Congenital heart diseases (CHD) occur in nearly 1% of all live births and are the major cause of infant mortality and morbidity. Although an improved understanding of the genetic causes of CHD would provide insight into the underlying pathobiology, the genetic etiology of most CHD remains unknown. Here we show that mutations in the gene encoding the transcription factor GATA6 cause CHD characteristic of a severe form of cardiac outflow tract (OFT) defect, namely persistent truncus arteriosus (PT ...[more]