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Article

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.

European journal of human genetics : EJHG - 1 Dec 2021

Pham Aurélie, Sobrier Marie-Laure, Giabicani Eloïse, Le Jules Fernandes Marilyne, Mitanchez Delphine, Brioude Fréderic, Netchine Irène

Abstract excerpt

Silver-Russell syndrome (SRS) is a rare imprinting disorder associated with prenatal and postnatal growth retardation. Loss of methylation (LOM) on chromosome 11p15 is observed in 40 to 60% of patients and maternal uniparental disomy (mUPD) for chromosome 7 (upd(7)mat) in ~5 to 10%. Patients with LOM or mUPD 14q32 can present clinically as SRS. Delta like non-canonical Notch ligand 1 (DLK1) is one of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34276055
DOI: 10.1038/s41431-021-00927-5
PMCID: PMC8633068

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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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