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  • Title: Molecular genetics of Wiedemann-Beckwith syndrome.
    Author: Li M, Squire JA, Weksberg R.
    Journal: Am J Med Genet; 1998 Oct 02; 79(4):253-9. PubMed ID: 9781904.
    Abstract:
    Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic cause of WBS will provide important insights into the molecular and epigenetic changes associated with loss of normal growth control and cancer in this syndrome. Currently available protocols for diagnostic testing, patient monitoring and genetic counselling will evolve as our understanding of the molecular basis of WBS progresses.
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