{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081006,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T00:00:00Z","timestamp":1737590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008994","name":"Universidade de Bras\u00edlia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008994","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005668","name":"Funda\u00e7\u00e3o de Apoio \u00e0 Pesquisa do Distrito Federal","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005668","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004836","name":"Danmarks Frie Forskningsfond","doi-asserted-by":"publisher","award":["DFF\u20104183\u201000482toNT"],"award-info":[{"award-number":["DFF\u20104183\u201000482toNT"]}],"id":[{"id":"10.13039\/501100004836","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Silver\u2013Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction. Most cases are caused by an imprinting error either with hypomethylation of the Imprinted Control Region 1 at 11p15.5, or maternal uniparental disomy of chromosome 7. Approximately 40% of the cases have unknown etiology, thus distinct mechanisms have been described in association with the syndrome. Here, we present a case of monozygotic twin sisters with a clinical diagnosis of SRS, mild intellectual disability and epilepsy who carry a balanced translocation between chromosomes 3 and 12 that interrupts the\n                    <jats:italic>NAALADL2<\/jats:italic>\n                    and\n                    <jats:italic>HMGA2<\/jats:italic>\n                    genes, respectively. Disruption of\n                    <jats:italic>HMGA2<\/jats:italic>\n                    , a gene previously described as causative of SRS, confirms the initial diagnosis.\n                    <jats:italic>NAALADL2<\/jats:italic>\n                    gene has been recently proposed as a candidate for intellectual disability and could partially contribute to our patient's phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.14699","type":"journal-article","created":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T08:34:43Z","timestamp":1737621283000},"page":"694-698","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Balanced Translocation\n                    <scp>t(3;12)<\/scp>\n                    Disrupting\n                    <i>HMGA2<\/i>\n                    and\n                    <i>NAALADL2<\/i>\n                    Genes in Twins With Silver\u2013Russell Syndrome and Intellectual Disability"],"prefix":"10.1111","volume":"107","author":[{"given":"Vanessa Sodr\u00e9","family":"de Souza","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Instituto Nacional de Doen\u00e7as Raras (InRaras), Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halinna Dornelles","family":"Wawruk","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mana M.","family":"Mehrjouy","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine (ICMM) University of Copenhagen  Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mads","family":"Bak","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine (ICMM) University of Copenhagen  Denmark"},{"name":"Department of Clinical Genetics Copenhagen University Hospital  Rigshospitalet Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela Corassa Rodrigues","family":"da Cunha","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Instituto Nacional de Doen\u00e7as Raras (InRaras), Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Caroline Gabriel","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara Santos","family":"Cordoba","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine (ICMM) University of Copenhagen  Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-0510","authenticated-orcid":false,"given":"Juliana F.","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Instituto Nacional de Doen\u00e7as Raras (InRaras), Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Hospital Universit\u00e1rio, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Faculdade de Medicina Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1891\/0730\u20100832.36.4.206"},{"key":"e_1_2_11_3_1","unstructured":"H. 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