Article
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus.
The Journal of clinical endocrinology and metabolism - 1 Nov 2006
Binder G, Seidel A-K, Weber K, Haase M, Wollmann H A, Ranke M B, Eggermann T
Abstract excerpt
CONTEXT: 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. OBJECTIVE: We aimed to deter...
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