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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

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 li...

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Bibliografski detalji
Glavni autori: Sperandeo, Maria Pia, Ungaro, Paola, Vernucci, Maria, Pedone, Paolo V., Cerrato, Flavia, Perone, Lucia, Casola, Stefano, Cubellis, Maria Vittoria, Bruni, Carmelo B., Andria, Generoso, Sebastio, Gianfranco, Riccio, Andrea
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2000
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288167/
https://ncbi.nlm.nih.gov/pubmed/10712200
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