{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:10:35Z","timestamp":1779930635478,"version":"3.53.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T00:00:00Z","timestamp":1732492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"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\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2018\/10893\u20106"],"award-info":[{"award-number":["2018\/10893\u20106"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2022\/10107\u20106"],"award-info":[{"award-number":["2022\/10107\u20106"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303294\/2020\u20105"],"award-info":[{"award-number":["303294\/2020\u20105"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Silver\u2010Russell syndrome (SRS) is an imprinting disorder mainly characterized by pre\u2010 and postnatal growth restriction. Most SRS cases are due to 11p15.5 loss of methylation (11p15.5 LOM) or maternal uniparental disomy of chromosome 7 [UPD(7)mat], but several patients remain molecularly undiagnosed. This study describes the molecular investigation of children with a clinical diagnosis or suspicion of SRS at a tertiary center specialized in growth disorders. Thirty\u2010nine patients were evaluated with multiplex ligation\u2010dependent probe amplification, chromosomal microarray and\/or massively parallel sequencing. The most common result was 11p15.5 LOM (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200917; 43.5%), followed by UPD(7)mat (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20092; 5.1%). Additionally, we found maternal duplications of the imprinting centers in 11p15.5 (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20092; 5.1%), and genetic defects in SRS\u2010causing genes (\n                    <jats:italic>IGF2<\/jats:italic>\n                    and\n                    <jats:italic>HMGA2<\/jats:italic>\n                    ) (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093; 7.7%; two mutations and one deletion). Alternative molecular diagnoses included UPD(14)mat (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20091; 2,6%), UPD(20)mat (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20091;2,6%), copy number variants (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20092; 5.1%), and mutations in genes associated with other growth disorders (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20094; 10.3%), leading to diagnoses of Temple syndrome, Mulchandani\u2010Bhoj\u2010Conlin syndrome, IGF\u20101 resistance (\n                    <jats:italic>IGF1R<\/jats:italic>\n                    ), Bloom syndrome (\n                    <jats:italic>BLM<\/jats:italic>\n                    ), Gabriele\u2010De Vries syndrome (\n                    <jats:italic>YY1<\/jats:italic>\n                    ), Intellectual developmental disorder autosomal dominant 50 with behavioral abnormalities (\n                    <jats:italic>NAA15<\/jats:italic>\n                    ), and Intellectual developmental disorder 64 (\n                    <jats:italic>ZNF292<\/jats:italic>\n                    ). These findings underscore the importance of establishing the molecular diagnosis of SRS and its differential diagnoses to guide appropriate management and genetic counseling.\n                  <\/jats:p>","DOI":"10.1111\/cge.14659","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T21:13:23Z","timestamp":1732569203000},"page":"441-445","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rare Causes and Differential Diagnosis in Patients With Silver\u2010Russell Syndrome"],"prefix":"10.1111","volume":"107","author":[{"given":"Barbara Leitao","family":"Braga","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9523-7697","authenticated-orcid":false,"given":"Renata","family":"da Cunha Scalco","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thais Kataoka","family":"Homma","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruna Lucheze","family":"Freire","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurana De Polli","family":"Cellin","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8662-5412","authenticated-orcid":false,"given":"Ana Pinheiro Machado","family":"Canton","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8336-6432","authenticated-orcid":false,"given":"Ant\u00f4nio Marcondes","family":"Lerario","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan  Ann Arbor USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4316-4999","authenticated-orcid":false,"given":"Mariana Ferreira","family":"de Assis Funari","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinicius","family":"de Souza","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4701-6777","authenticated-orcid":false,"given":"Debora Romeo","family":"Bertola","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica, Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas da Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1514-0244","authenticated-orcid":false,"given":"Alexsandra Christianne","family":"Malaquias","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"},{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Departamento de Pediatria Faculdade de Ci\u00eancias M\u00e9dicas da Santa Casa de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1762-1084","authenticated-orcid":false,"given":"Berenice Bilharinho","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander Augusto","family":"de Lima Jorge","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42) Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o 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