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  • Title: Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.
    Author: Reed JA, Crotwell PL, Stein Q, Mroch A, Davis-Keppen L, Khan A.
    Journal: S D Med; 2017 Nov; 70(11):505-509. PubMed ID: 29088522.
    Abstract:
    Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.
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