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Epigenetic mutations of 11p15 encompassing IGF2 are present in short children with Silver-Russell syndrome (SRS) with high frequency (31-50%). It has been speculated that these mutations characterized by demethylation of ICR1 cause diminished IGF2 expression.

IGF-II Serum Levels Are Normal in Children with Silver-Russell Syndrome Who Frequently Carry Epimutations at theIGF2Locus