Blar i Department of Clinical Science på tidsskrift "Cold Spring Harbor Molecular Case Studies"
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Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features
(Journal article; Peer reviewed, 2021)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, ...