Article
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Epigenetics - 1 Oct 2013
Calvello Mariarosaria, Tabano Silvia, Colapietro Patrizia, Maitz Silvia, Pansa Alessandra, Augello Claudia, Lalatta Faustina, Gentilin Barbara, Spreafico Filippo, Calzari Luciano, Perotti Daniela, Larizza Lidia, Russo Silvia, Selicorni Angelo, Sirchia Silvia M, Miozzo Monica
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic alterations that dysregulate the imprinted genes on chromosome region 11p15.5. Molecular analysis is required to reinforce th...
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