Article
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.
Human molecular genetics - 15 Oct 2001
Funke B, Epstein J A, Kochilas L K, Lu M M, Pandita R K, Liao J, Bauerndistel R, Schüler T, Schorle H, Brown M C, Adams J, Morrow B E
Abstract excerpt
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 22q11 deletions. We previously showed that bacterial artificial chromosome (BAC) transgenic mice overexpressing four transgenes, PNUTL1, (CDCrel-1), GP1B beta, TBX1 and WDR14, had reduced viability, cardiovascular malformations and thymus gland hypoplasia. Since these are hallmark features of...
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