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Article

Silver Russel syndrome in an aboriginal patient from Australia.

American journal of medical genetics. Part A - 1 Dec 2018

Poulton Cathryn, Azmanov Dimitar, Atkinson Vanessa, Beilby John, Ewans Lisa, Gration Dylan, Dreyer Lauren, Shetty Vinutha, Peake Ciara, McCormack Emma, Palmer Richard, Lewis Barry, Dawkins Hugh, Broley Stephanie, Baynam Gareth

Abstract excerpt

Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%-70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive...

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PMID: 30152198
DOI: 10.1002/ajmg.a.40502

Genes

IGF2

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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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