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  • Title: Developing models of DiGeorge syndrome.
    Author: Epstein JA.
    Journal: Trends Genet; 2001 Oct; 17(10):S13-7. PubMed ID: 11585671.
    Abstract:
    DiGeorge syndrome is a common congenital disorder characterized by neural-crest-related developmental defects. Mouse models of DiGeorge syndrome have been created that recapitulate defects seen in human patients. Here, the genetic pathways regulating cardiac neural crest development are reviewed and the evidence implicating TBX1 and other genes on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized.
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