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11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

✍ Scribed by Netchine, Irène; Rossignol, Sylvie; Dufourg, Marie-Noëlle; Azzi, Salah; Rousseau, Alexandra; Perin, Laurence; Houang, Muriel; Steunou, Virginie; Esteva, Blandine; Thibaud, Nathalie; Raux Demay, Marie-Charles; Danton, Fabienne; Petriczko, Elzbieta; Bertrand, Anne-Marie; Heinrichs, Claudine; Carel, Jean-Claude; Loeuille, Guy-André; Pinto, Graziella; Jacquemont, Marie-Line; Gicquel, Christine; Cabrol, Sylvie; Le Bouc, Yves

Book ID: 127122445
Publisher: Endocrine Society
Year: 2007
Tongue: English
Weight: 271 KB
Volume: 92
Category: Article
ISSN: 0021-972X
DOI: 10.1210/jc.2007-0354

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Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this l