{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T12:59:58Z","timestamp":1791032398602,"version":"4.1.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T00:00:00Z","timestamp":1693872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017950","name":"Shanghai Municipal Health Commission","doi-asserted-by":"publisher","award":["shslczdzk02903"],"award-info":[{"award-number":["shslczdzk02903"]}],"id":[{"id":"10.13039\/100017950","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003359","name":"Scoliosis Research Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.ejmg.2023.104837","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T02:05:35Z","timestamp":1693793135000},"page":"104837","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical characterization of PLAG1- related Silver-Russell syndrome\uff1aA clinical report"],"prefix":"10.1016","volume":"66","author":[{"given":"Ping","family":"Dong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-xue","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-lan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2023.104837_bib1","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/gim.2017.105","article-title":"Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction","volume":"20","author":"Abi Habib","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2023.104837_bib2","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.3892\/ijo.2012.1641","article-title":"Cell type and context-specific function of PLAG1 for IGF2 P3 promoter activity","volume":"41","author":"Akhtar","year":"2012","journal-title":"Int. J. Oncol."},{"key":"10.1016\/j.ejmg.2023.104837_bib3","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","article-title":"A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome","volume":"52","author":"Azzi","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib4","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/jhg.2015.29","article-title":"A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype","volume":"60","author":"De Crescenzo","year":"2015","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib5","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1002\/ajmg.a.36464","article-title":"Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome","volume":"164A","author":"Fokstuen","year":"2014","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib6","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1629","article-title":"Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome","volume":"37","author":"Gicquel","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib7","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.1210\/clinem\/dgaa273","article-title":"HMGA2 variants in Silver-Russell syndrome: homozygous and heterozygous occurrence","volume":"105","author":"H\u00fcbner","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"6","key":"10.1016\/j.ejmg.2023.104837_bib8","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jmedgenet-2018-105463","article-title":"Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology","volume":"56","author":"Inoue","year":"2019","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib9","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/s13148-020-00865-x","article-title":"Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients","volume":"12","author":"Inoue","year":"2020","journal-title":"Clin. Epigenet."},{"issue":"2","key":"10.1016\/j.ejmg.2023.104837_bib10","doi-asserted-by":"crossref","first-page":"R45","DOI":"10.1530\/JOE-15-0449","article-title":"Emerging role of PLAG1 as a regulator of growth and reproduction","volume":"228","author":"Juma","year":"2016","journal-title":"J. Endocrinol."},{"key":"10.1016\/j.ejmg.2023.104837_bib11","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng0297-170","article-title":"Promoter swapping between the genes for a novel zinc finger protein and \u03b2-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations","volume":"15","author":"Kas","year":"1997","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2023.104837_bib12","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1097\/MPG.0000000000001708","article-title":"Effect of cyproheptadine on weight and growth velocity in children with Silver-Russell syndrome","volume":"66","author":"Lemoine","year":"2018","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"issue":"1","key":"10.1016\/j.ejmg.2023.104837_bib13","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13023-021-01683-x","article-title":"One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome","volume":"16","author":"Meyer","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2023.104837_bib14","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.cell.2013.11.043","article-title":"The architecture of parent-of-origin effects in mice","volume":"156","author":"Mott","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2023.104837_bib15","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1093\/hmg\/ddq091","article-title":"A genome-wide association study in 19633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci","volume":"19","author":"Okada","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib16","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1002\/ajmg.a.40502","article-title":"Silver Russel syndrome in an aboriginal patient from Australia","volume":"176","author":"Poulton","year":"2018","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104837_bib17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"12","key":"10.1016\/j.ejmg.2023.104837_bib18","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.3390\/cells11121886","article-title":"IGF2: development, genetic and epigenetic abnormalities","volume":"11","author":"S\u00e9l\u00e9nou","year":"2022","journal-title":"Cells"},{"issue":"12","key":"10.1016\/j.ejmg.2023.104837_bib19","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.3390\/genes11121461","article-title":"Novel variant in PLAG1 in a familial case with Silver-Russell syndrome suspicion","volume":"11","author":"Vado","year":"2020","journal-title":"Genes"},{"key":"10.1016\/j.ejmg.2023.104837_bib20","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nrendo.2016.138","article-title":"Diagnosis and management of Silver-Russell syndrome: first international consensus statement","volume":"13","author":"Wakeling","year":"2016","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.ejmg.2023.104837_bib21","series-title":"WHO Anthro (Version 3.2.2, January 2011) and Macros","author":"World Health Organization","year":"2011"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122300143X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122300143X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:09Z","timestamp":1761710049000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972122300143X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["S176972122300143X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104837","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical characterization of PLAG1- related Silver-Russell syndrome\uff1aA clinical report","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104837","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104837"}}