Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Nature reviews. Endocrinology - 1 Apr 2018
Brioude Frédéric, Kalish Jennifer M, Mussa Alessandro, Foster Alison C, Bliek Jet, Ferrero Giovanni Battista, Boonen Susanne E, Cole Trevor, Baker Robert, Bertoletti Monica, Cocchi Guido, Coze Carole, De Pellegrin Maurizio, Hussain Khalid, Ibrahim Abdulla, Kilby Mark D, Krajewska-Walasek Malgorzata, Kratz Christian P, Ladusans Edmund J, Lapunzina Pablo, Le Bouc Yves, Maas Saskia M, Macdonald Fiona, Õunap Katrin, Peruzzi Licia, Rossignol Sylvie, Russo Silvia, Shipster Caroleen, Skórka Agata, Tatton-Brown Katrina, Tenorio Jair, Tortora Chiara, Grønskov Karen, Netchine Irène, Hennekam Raoul C, Prawitt Dirk, Tümer Zeynep, Eggermann Thomas, Mackay Deborah J G, Riccio Andrea, Maher Eamonn R
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of...
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