Article

Molecular characterisation of an Italian cohort of Silver-Russell Syndrome patients by -omics approaches

2026-08-06

Abstract excerpt

<title>Abstract</title> <p> Silver-Russell syndrome (SRS) is an imprinting disorder primarily associated with growth retardation. A molecular diagnosis is achieved in about 60% of patients. The most common defect is loss of methylation (LoM) at the <italic>H19/IGF2</italic> imprinting locus on chromosome (chr) 11p15.5, followed by maternal uniparental disomy of chromosome 7 (upd(7)mat). Less frequent causes in...

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Literature Corpus work: 72e0622e-2d68-51bc-bcf7-f32733186bc9
DOI: 10.21203/rs.3.rs-10489286/v1

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