Article
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Genes - 16 Oct 2022
Passaretti Francesco, Pignata Laura, Vitiello Giuseppina, Alesi Viola, D'Elia Gemma, Cecere Francesco, Acquaviva Fabio, De Brasi Daniele, Novelli Antonio, Riccio Andrea, Iolascon Achille, Cerrato Flavia
Abstract excerpt
Silver-Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci. In the majority of cases, the molecular defect is the loss of methylation (LOM) of the H19/IGF2 differentially methylated region (DMR, also known as IC1) at the telomeric domain of the 11p15.5 imprinted genes cluster, which...
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