Molecular genetics of Beckwith-Wiedemann syndrome.

  title={Molecular genetics of Beckwith-Wiedemann syndrome.},
  author={Madeline Li and Jeremy A Squire and Rosanna A Weksberg},
  journal={Current opinion in pediatrics},
  volume={9 6},
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder characterized by developmental anomalies, tissue and organ hyperplasia, and an increased risk of embryonal tumors. BWS is a multigenic disorder with dysregulation of the expression of imprinted genes involved in growth and cell cycle control in the 11p15 chromosomal region. The molecular genetics appear to involve either mutations of imprinted genes or chromosomal alterations of a putative imprinting center that controls gene… CONTINUE READING


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