Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome
Frédéric Brioude,
Jennifer M Kalish,
Alessandro Mussa,
Alison C Foster,
Jet Bliek,
Giovanni Battista Ferrero,
Susanne E Boonen,
Trevor Cole,
Robert Baker,
Monica Bertoletti,
Guido Cocchi,
Carole Coze,
Maurizio De Pellegrin,
Khalid Hussain,
Abdulla Ibrahim,
Mark D Kilby,
Malgorzata Krajewska-Walasek,
Christian P Kratz,
Edmund J Ladusans,
Pablo Lapunzina,
Yves Le Bouc,
Saskia M Maas,
Fiona MacDonald,
Katrin Õunap,
Licia Peruzzi,
Sylvie Rossignol,
Silvia Russo,
Caroleen Shipster,
Agata Skórka,
Katrina Tatton-Brown,
Jair Tenorio,
Chiara Tortora,
Karen Grønskov,
Irène Netchine,
Raoul C Hennekam,
Dirk Prawitt,
Zeynep Tümer,
Thomas Eggermann,
Deborah JG Mackay,
Andrea Riccio,
Eamonn R Maher
Jul 02, 2018
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...