{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:10:26Z","timestamp":1788354626744,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,8,27]],"date-time":"2018-08-27T00:00:00Z","timestamp":1535328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Silver\u2010Russell syndrome (SRS OMIM 180860) is a rare, albeit well\u2010recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%\u201370% of patients.<\/jats:p><jats:p>We report a 4\u2010year\u2010old Australian Aboriginal girl who was born at 32\u2009weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in <jats:italic>IGF2<\/jats:italic> which is predicted to be pathogenic by in\u2010silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts. We compare clinical findings with reported patients to add to the knowledge base on <jats:italic>IGF2<\/jats:italic> variants and to promote the engagement of other Australian Aboriginal families in genomic medicine.<\/jats:p>","DOI":"10.1002\/ajmg.a.40502","type":"journal-article","created":{"date-parts":[[2018,8,28]],"date-time":"2018-08-28T11:32:23Z","timestamp":1535455943000},"page":"2561-2563","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Silver Russel syndrome in an aboriginal patient from Australia"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0763-6218","authenticated-orcid":false,"given":"Cathryn","family":"Poulton","sequence":"first","affiliation":[{"name":"Department of Neonatology Fiona Stanley Hospital  Murdoch Western Australia Australia"},{"name":"Department of Paediatrics Fiona Stanley Hospital  Murdoch Western Australia 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciara","family":"Peake","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Perth Children's Hospital Foundation  Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"McCormack","sequence":"additional","affiliation":[{"name":"Faculty of Science, Doctor of Medicine Program University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Palmer","sequence":"additional","affiliation":[{"name":"School of Spatial Sciences Curtin University \u2010 Perth City Campus  Bentley Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry PathWest Laboratory Medicine Western Australia  Nedlands Western Australia 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