{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T21:09:16Z","timestamp":1767474556162,"version":"3.41.0"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, <jats:italic toggle=\"yes\">PLAG1<\/jats:italic> variants have been described (OMIM #618907). <jats:italic toggle=\"yes\">PLAG1<\/jats:italic> haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000375","type":"journal-article","created":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T10:00:09Z","timestamp":1630749609000},"page":"194-196","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1"],"prefix":"10.1097","volume":"30","author":[{"given":"Jos\u00e9 Ram\u00f3n","family":"Fern\u00e1ndez-Fructuoso","sequence":"first","affiliation":[{"name":"Servicio de Pediatr\u00eda, Unidad de Neonatolog\u00eda, Hospital General Universitario de Santa Luc\u00eda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"De la Torre-Sandoval","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital General Universitario de Santa Luc\u00eda, Cartagena, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine D.","family":"Harbison","sequence":"additional","affiliation":[{"name":"Mount Sinai Department of Pediatrics, Icahn School of Medicine, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Chantot-Bastaraud","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Armand-Trousseau, D\u00e9partement de G\u00e9n\u00e9tique, UF de G\u00e9n\u00e9tique Chromosomique, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Temple","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Southampton, University of Southampton, Southampton, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Maria","family":"Lloreda-Garcia","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Unidad de Neonatolog\u00eda, Hospital General Universitario de Santa Luc\u00eda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Olmo-Sanchez","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Unidad de Neonatolog\u00eda, Hospital General Universitario de Santa Luc\u00eda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Netchine","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM UMR_S 938, Centre de Recherche Saint Antoine, APHP, H\u00f4pital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/gim.2017.105","article-title":"Genetic disruption of the oncogenic 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