Article
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
American journal of human genetics - 1 Mar 2000
Sperandeo M P, Ungaro P, Vernucci M, Pedone P V, Cerrato F, Perone L, Casola S, Cubellis M V, Bruni C B, Andria G, Sebastio G, Riccio A
Abstract excerpt
Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which insulin-like growth factor 2 (IGF2) is the most likely candidate, is believed to cause BWS, whereas the etiology of KTWS is completely obscure. We report a case of...
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