Article
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
The Journal of clinical investigation - 1 Dec 1999
Benson D W, Silberbach G M, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson M C, Watson M S, Seidman J G, Seidman C E, Plowden J, Kugler J D
Abstract excerpt
Heterozygous mutations in NKX2.5, a homeobox transcription factor, were reported to cause secundum atrial septal defects and result in atrioventricular (AV) conduction block during postnatal life. To further characterize the role of NKX2.5 in cardiac morphogenesis, we sought additional mutations in groups of probands with cardiac anomalies and first-degree AV block, idiopathic AV block, or tetralogy of Fallot. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.