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Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.

Human mutation - 1 Mar 2018

Tümer Zeynep, López-Hernández Julia Angélica, Netchine Irène, Elbracht Miriam, Grønskov Karen, Gede Lene Bjerring, Sachwitz Jana, den Dunnen Johan T, Eggermann Thomas

Abstract excerpt

Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7...

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PMID: 29250858
DOI: 10.1002/humu.23382

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IGF2

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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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