Article
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.
Nature genetics - 1 Mar 2001
Jerome L A, Papaioannou V E
Abstract excerpt
The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one candidate gene, Tbx1, which encodes a transcription factor of the T-box family, by producing a null...
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