Blar i Department of Clinical Medicine på forfatter "Appelbäck, Mia Sanby"
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Evidence for anticipation in Beckwith-Wiedemann syndrome
Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar (Journal article; Peer reviewed, 2013)Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children’s mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. ...