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Article

Epigenetic and genetic diagnosis of Silver-Russell syndrome.

Expert review of molecular diagnostics - 1 Jun 2012

Eggermann Thomas, Spengler Sabrina, Gogiel Magdalena, Begemann Matthias, Elbracht Miriam

Abstract excerpt

Silver-Russell syndrome (SRS) is a congenital imprinting disorder characterized by intrauterine and postnatal growth restriction and further characteristic features. SRS is genetically heterogenous: 7-10% of patients carry a maternal uniparental disomy of chromosome 7; >38% show a hypomethylation in imprinting control region 1 in 11p15; and a further class of mutations are copy number variations affecting...

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Identifiers

PMID: 22702363
DOI: 10.1586/erm.12.43

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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