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Article

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

6 May 2016

Abstract excerpt

Silver–Russell syndrome (SRS) is a representative imprinting disorder associated with growth failure and characteristic somatic features [Azzi et al., 2014]. Recent studies have identified epimutation (hypomethylation) of the paternally derived H19-differentially methylated region (DMR) at the imprinting control region 1 (ICR1) on chromosome 11p15.5 in ∼45% of SRS patients and maternal uniparental disomy 7...

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PMID: 27150791
DOI: 10.1002/ajmg.a.37679

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