{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:00:52Z","timestamp":1773270052671,"version":"3.50.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2003,10,22]],"date-time":"2003-10-22T00:00:00Z","timestamp":1066780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2003,11]]},"DOI":"10.1038\/sj.ejhg.5201050","type":"journal-article","created":{"date-parts":[[2003,10,22]],"date-time":"2003-10-22T08:16:52Z","timestamp":1066810612000},"page":"858-865","source":"Crossref","is-referenced-by-count":104,"title":["Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes"],"prefix":"10.1038","volume":"11","author":[{"given":"Seval","family":"T\u00fcrkmen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luitgard M","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Hesse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00fckr\u00fc","family":"Palanduz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Balg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrun","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Zschieschang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Greiwe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten","family":"Mennicke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friedmar R","family":"Kreuz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald J","family":"Dehmel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burkhard","family":"Rodeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2003,10,22]]},"reference":[{"key":"BF5201050_CR1","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1007\/BF00443257","volume":"137","author":"F Majewski","year":"1981","unstructured":"Majewski F, Ranke M, Kemperdick H, Schmidt E : The Weaver syndrome: a rare type of primordial overgrowth. Eur J Pediatr 1981; 137: 277\u2013282.","journal-title":"Eur J Pediatr"},{"key":"BF5201050_CR2","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO;2-M","volume":"79","author":"JM Opitz","year":"1998","unstructured":"Opitz JM, Weaver DW, Reynolds Jr JF : The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998; 79: 294\u2013304.","journal-title":"Am J Med Genet"},{"key":"BF5201050_CR3","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1002\/ajmg.1320500313","volume":"50","author":"C Maroun","year":"1994","unstructured":"Maroun C, Schmerler S, Hutcheon RG : Child with Sotos phenotype and a 5:15 translocation. Am J Med Genet 1994; 50: 291\u2013293.","journal-title":"Am J Med Genet"},{"key":"BF5201050_CR4","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/ajmg.10080","volume":"107","author":"K Imaizumi","year":"2002","unstructured":"Imaizumi K, Kimura J, Matsuo M et al: Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). Am J Med Genet 2002; 107: 58\u201360.","journal-title":"Am J Med Genet"},{"key":"BF5201050_CR5","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/ng863","volume":"30","author":"N Kurotaki","year":"2002","unstructured":"Kurotaki N, Imaizumi K, Harada N et al: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365\u2013366.","journal-title":"Nat Genet"},{"key":"BF5201050_CR6","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1086\/345647","volume":"72","author":"J Douglas","year":"2003","unstructured":"Douglas J, Hanks S, Temple IK et al: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72: 132\u2013143.","journal-title":"Am J Hum Genet"},{"key":"BF5201050_CR7","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1136\/jmg.40.4.285","volume":"40","author":"T Nagai","year":"2003","unstructured":"Nagai T, Matsumoto N, Kurotaki N et al: Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 2003; 40: 285\u2013289.","journal-title":"J Med Genet"},{"key":"BF5201050_CR8","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1086\/375166","volume":"72","author":"N Miyake","year":"2003","unstructured":"Miyake N, Kurotaki N, Sugawara H et al: Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 2003; 72: 1331\u20131337.","journal-title":"Am J Hum Genet"},{"key":"BF5201050_CR9","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/S0378-1119(01)00750-8","volume":"279","author":"N Kurotaki","year":"2001","unstructured":"Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N : Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 2001; 279: 197\u2013204.","journal-title":"Gene"},{"key":"BF5201050_CR10","doi-asserted-by":"publisher","first-page":"6357","DOI":"10.1128\/MCB.13.10.6357","volume":"13","author":"GW Jones RS","year":"1993","unstructured":"Jones RS GW : The Drosophila polycomb-group gene Enhancer of zeste contains a region with sequence similarity to trithorax. Mol Cell Biol 1993; 13: 6357\u20136366.","journal-title":"Mol Cell Biol"},{"issue":"16","key":"BF5201050_CR11","doi-asserted-by":"publisher","first-page":"3822","DOI":"10.1002\/j.1460-2075.1994.tb06693.x","volume":"13","author":"B. Tschiersch","year":"1994","unstructured":"Tschiersch B HA, Krauss V, Dorn R, Korge G, Reuter G : The protein encoded by the Drosophila position \u2013 effect variegation suppressor gene Su(var)3\u20139 combines domains of antagonistic regulators of homeotic gene complexes. EMBO J 1994; Aug 15; 13: 3822\u20133831.","journal-title":"The EMBO Journal"},{"key":"BF5201050_CR12","doi-asserted-by":"publisher","first-page":"3398","DOI":"10.1093\/emboj\/17.12.3398","volume":"17","author":"N Huang","year":"1998","unstructured":"Huang N, vom Baur E, Gamier JM et al: Two distinct nuclear receptor interaction domains in NSD1 a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J 1998; 17: 3398\u20133412.","journal-title":"EMBO J"},{"key":"BF5201050_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0014-5793(00)01449-6","volume":"473","author":"I Stec","year":"2000","unstructured":"Stec I, Nagl SB, van Ommen G\u2013JB, den Dunnen JT : The PWWP domain: a potential protein\u2013protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett 2000; 473: 1\u20135.","journal-title":"FEBS Lett"},{"key":"BF5201050_CR14","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1136\/jmg.31.1.20","volume":"31","author":"TR Cole","year":"1994","unstructured":"Cole TR, Hughes HE : Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994; 31: 20\u201332.","journal-title":"J Med Genet"},{"key":"BF5201050_CR15","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/S0968-0004(00)88957-4","volume":"20","author":"R Aasland","year":"1995","unstructured":"Aasland R, Gibson TJ, Stewart AF : The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci 1995; 20: 56\u201359.","journal-title":"Trends Biochem Sci"},{"key":"BF5201050_CR16","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1136\/jmg.40.1.51","volume":"40","author":"P Hoglund","year":"2003","unstructured":"Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto N : Familial Sotos syndrome is caused by a novel 1\u2009bp deletion of the NSD1 gene. J Med Genet 2003; 40: 51\u201354.","journal-title":"J Med Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201050.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201050","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201050.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:30:02Z","timestamp":1684373402000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,22]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2003,11]]}},"alternative-id":["BF5201050"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201050","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,22]]}}}