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Article

Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.

American journal of medical genetics. Part A - 1 Oct 2021

Brereton Rebecca E, Nickerson Sarah L, Woodward Karen J, Edwards Tracey, Sivamoorthy Soruba, Ramos Vasques Walters Fabiana, Chabros Vicki, Marchin Vanessa, Grumball Tanya, Kennedy Dagmara, Uzaraga Joan, Peverall Joanne, Arscott Gillian, Beilby John, Choong Catherine S, Townshend Sharron, Azmanov Dimitar N

Abstract excerpt

Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental disomy of chromosome 7 (upd[7]mat) are the most common genetic mechanisms responsible for SRS, the expanding body of literature describing alternative causative...

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PMID: 34223693
DOI: 10.1002/ajmg.a.62391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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