Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Author:

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.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference184 articles.

1. Eggermann, T. et al. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clin. Epigenet. 7, 123 (2015).

2. Choufani, S., Shuman, C. & Weksberg, R. Beckwith-Wiedemann syndrome. Am. J. Med. Genet. Part C Semin. Med. Genet. 154C, 343–354 (2010).

3. Mussa, A. et al. Prevalence of beckwith-wiedemann syndrome in North West of Italy. Am. J. Med. Genet. Part A 161, 2481–2486 (2013).

4. de Villiers, M. R., de Villiers, P. J. T. & Kent, A. P. The Delphi technique in health sciences education research. Med. Teach. 27, 639–643 (2005).

5. Beckwith, J. B. Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia: another syndrome in Annual Meeting of Western Society of Pediatric Research (Los Angeles, California, 1963).

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