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Article

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

Journal of medical genetics - 1 Sept 2013

Dias Renuka P, Nightingale Peter, Hardy Carol, Kirby Gail, Tee Louise, Price Susan, Macdonald Fiona, Barrett Timothy G, Maher Eamonn R

Abstract excerpt

BACKGROUND: About half of all children with a clinical diagnosis of Silver-Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome upd(7)mat or hypomethylation of H19 differentially methylated region (DMR). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the...

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Identifiers

PMID: 23812911
DOI: 10.1136/jmedgenet-2013-101693

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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