Article
The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS).
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) - 1 Jan 2013
Gucev Zoran S, Saranac Ljiljana, Jancevska Aleksandra, Tasic Velibor
Abstract excerpt
BACKGROUND: Hypomethylation of the imprinting control region 1 (ICR 1) at the IGF2/H19 locus on 11p15 is linked to Silver-Russel syndrome (SRS). METHODS AND RESULTS: We tested the hypothesis that the severity of the phenotype in SRS patients is dependent on the clinical severity score (CSS) (1). Three SRS patients were clinically scored and their scores ranged between 12, 13 and 13. Two of the three SRS patients...
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