(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

  title={(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome},
  author={Alessandro Mussa and Silvia Russo and Agostina De Crescenzo and Andrea Freschi and Luciano Calzari and Silvia Maitz and Marina Macchiaiolo and Cristina Molinatto and Giuseppina Baldassarre and Milena Mariani and Luigi Tarani and Maria F Bedeschi and Donatella Milani and Daniela Melis and Andrea Bartuli and Maria Vittoria Cubellis and Angelo Selicorni and Margherita Cirillo Silengo and L Larizza and Andrea Riccio and Giovanni Battista Ferrero},
  journal={European Journal of Human Genetics},
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes… CONTINUE READING