TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

@article{Merscher2001TBX1IR,
  title={TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome},
  author={Sandra Merscher and Birgit H Funke and Jonathan A. Epstein and Joerg Heyer and Anne Puech and Min Min Lu and Ramnik J. Xavier and Marie B Demay and R Graham Russell and Stephen M. Factor and Kazuhito Tokooya and Bruno St. Jore and Melissa Succi Lopez and Raj K. Pandita and M C Lima Lia and D V Humberto Carri{\'o}n and Hui Ling Xu and Hubert Schorle and James B. Kobler and Peter J. Scambler and Anthony Wynshaw-Boris and Arthur I. Skoultchi and Bernice E Morrow and Raju Kucherlapati},
  journal={Cell},
  year={2001},
  volume={104},
  pages={619-629}
}
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethality and have conotruncal and parathyroid defects. The… CONTINUE READING
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