Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features
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Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith-Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, hemangiomas, and earlobe creases) in ad... ...