Browsing Bergen Open Research Archive by Author "Rustad, Cecilie"

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    • Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features 

      Berland, Siren; Rustad, Cecilie; Bentsen, Mariann; Wollen, Embjørg Julianne; Turowski, Gitta Erika; Johansson, Stefan; Houge, Gunnar Douzgos; Haukanes, Bjørn Ivar (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, ...