title: DiGeorge syndrome: an update.
abstract: OBJECTIVE
  This article is an update on DiGeorge syndrome research focusing on the synergy of human and model systems genetics toward the understanding of conotruncal and aortic arch defects.
  
  
  RESULTS
  The identification of mutations of the human T-Box1 (TBX1) gene and progress on research of Tbx1 function in mouse development demonstrate the pathogenetic role of this gene in DiGeorge syndrome and generate new hypotheses about its function in cardiovascular development.
  
  
  CONCLUSIONS
  The Tbx1 genetic pathway and the cell biology of tissues contributing to pharyngeal arch arteries and cardiac outflow tract are the foundation for understanding congenital heart disease in DiGeorge syndrome.
authors.affiliation: Division of Cardiology, Department of Pediatrics, and Center for Cardiovascular Development, Baylor College of Medicine, Houston, Texas 77030, USA. baldini@bcm.tmc.edu
authors.forename: Antonio
authors.initials: A
authors.lastname: Baldini
mesh_terms: D000818:Animals; D001013:Aorta, Thoracic / Q000002:abnormalities; D004062:DiGeorge Syndrome / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D009154:Mutation; D020825:T-Box Domain Proteins / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics
chemical_list: D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse