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Article

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

Scientific reports - 22 Dec 2025

Vimercati Alessandro, Patti Giuseppa, Tannorella Pierpaola, Guzzetti Sara, Calzari Luciano, Branca Lara, Bellini Melissa, Larizza Lidia, Napoli Flavia, Allegri Anna Elsa Maria, Maghnie Mohamad, Russo Silvia

Abstract excerpt

Silver-Russell syndrome (SRS, MIM#180860) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, feeding difficulties, and body asymmetry. Clinical diagnosis is based on at least 4 out of 6 clinical signs (Netchine-Harbison clinical scoring system). The main molecular mechanisms are loss of methylation at the paternal...

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Share to Apoptosis Regulatory Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41429883
DOI: 10.1038/s41598-025-32983-y
PMCID: PMC12749060

Genes

PEG10
CDKN1C
IGF2
GRB10
MEST
SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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