Article
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
Cell - 23 Feb 2001
Merscher S, Funke B, Epstein J A, Heyer J, Puech A, Lu M M, Xavier R J, Demay M B, Russell R G, Factor S, Tokooya K, Jore B S, Lopez M, Pandita R K, Lia M, Carrion D, Xu H, Schorle H, Kobler J B, Scambler P, Wynshaw-Boris A, Skoultchi A I, Morrow B E, Kucherlapati R
Abstract excerpt
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...
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