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Article

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Journal of medical genetics - 1 May 2011

Grønskov Karen, Poole Rebecca L, Hahnemann Johanne M D, Thomson Jennifer, Tümer Zeynep, Brøndum-Nielsen Karen, Murphy Rinki, Ravn Kirstine, Melchior Linea, Dedic Alma, Dolmer Birgitte, Temple I Karen, Boonen Susanne E, Mackay Deborah J G

Abstract excerpt

Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregulation of IGF2 and bi-allelic expression of H19. H19 and IGF2 are reciprocally imprinted genes on chromosome 11p15. The...

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Share to Chromosomes, Human, Pair 11
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Insulin-Like Growth Factor II

Share to RNA, Long Noncoding

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Source

Identifiers

PMID: 21278389
DOI: 10.1136/jmg.2010.086504

Genes

IGF2

Provenance

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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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.PMID 21278389Read ↗

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