{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:54:37Z","timestamp":1790913277932,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Sotos syndrome is an overgrowth disorder caused by heterozygous\n                    <jats:italic>NSD1<\/jats:italic>\n                    variants, partial\u2010gene deletions, or 5q35 microdeletions. Malan syndrome, a phenotypically overlapping condition, results from haploinsufficiency of the\n                    <jats:italic>NFIX<\/jats:italic>\n                    gene due to either heterozygous chromosomal microdeletions involving the 19p13.2 region or heterozygous loss\u2010of\u2010function variants. This multicenter study aimed to characterize the clinical and molecular features of individuals with Sotos and Malan syndromes in T\u00fcrkiye. We retrospectively analyzed clinical and molecular data from 48 individuals with genetically confirmed Sotos or Malan syndrome across 14 centers. Molecular analyses included whole\u2010exome sequencing, clinical exome sequencing, targeted gene panels, multiplex ligation\u2013dependent probe amplification, and chromosomal microarray analysis. Forty\u2010two individuals were diagnosed with Sotos syndrome and six with Malan syndrome. All exhibited characteristic facial features, and 97.9% had developmental delay or intellectual disability. We identified a total of 38\n                    <jats:italic>NSD1<\/jats:italic>\n                    variants, of which 35 were classified as pathogenic or likely pathogenic and three as variants of uncertain significance; notably, 23 of these variants were novel. Three patients carried 5q35 microdeletions, and one had an intragenic deletion involving exons 10\u201311. Four distinct\n                    <jats:italic>NFIX<\/jats:italic>\n                    variants (two novel) were detected in five patients, and one carried a 19p13.13 deletion encompassing the entire gene. This nationwide study expands the genotype\u2013phenotype spectrum of Sotos and Malan syndromes in T\u00fcrkiye and supports improved diagnostic and clinical management strategies.\n                  <\/jats:p>","DOI":"10.1111\/cge.70225","type":"journal-article","created":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T00:30:45Z","timestamp":1787185845000},"page":"558-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0853-3253","authenticated-orcid":false,"given":"Ceren Y\u0131lmaz","family":"Uzman","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Dr.Beh\u00e7et Uz Children's Hospital  Izmir 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