{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:58Z","timestamp":1753869718398,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sotos syndrome (SS) is a rare disorder characterized by overgrowth, distinctive facial features, and intellectual disability that is primarily caused by NSD1 pathogenic variants or 5q35 microdeletions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively analyzed the clinical characteristics and 339 anthropometric measurements over an average of 4.3\u2009years of follow\u2010up in 57 Korean children with SS. Sex\u2010specific percentile curves for height, weight, and head circumference were developed using a generalized additive model that included factors such as location, scale, and shape.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Males with SS demonstrated higher height before the age of 12.0, greater weight before 10.0, and larger head circumference before 15.5 compared to age\u2010 and sex\u2010matched controls. Females with SS displayed higher height before 17.0, greater weight before 10.5, and larger head circumference before 12.0 compared to controls. Bone age was advanced compared to chronological age in 40% of males and 8% of females at their last visit. The predicted and target adult heights were not significantly different between groups. In subgroup analysis, the intragenic variant group (<jats:italic>n<\/jats:italic>\u2009=\u200948) showed a higher mean standard deviation score of height and weight in males, and head circumference in females compared to the microdeletion group (<jats:italic>n<\/jats:italic>\u2009=\u20099).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Korean children with genetically confirmed SS exhibited overgrowth in height, weight, and head circumference. Overgrowth phenotypes were more prominent in patients with <jats:italic>NSD1<\/jats:italic> intragenic variants than in those with microdeletions. This is the first study to provide reference data on the growth of Korean children with SS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70028","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T10:44:34Z","timestamp":1730717074000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease\u2010Specific Growth Chart"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2966-9608","authenticated-orcid":false,"given":"Naye","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Korea University Anam Hospital  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3238-5315","authenticated-orcid":false,"given":"Hwa\u00a0Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Bundang Hospital  Seongnam Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0407-7828","authenticated-orcid":false,"given":"Jung\u00a0Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital  Seoul Korea"},{"name":"Department of Pediatrics Seoul National University College of Medicine  Seoul Korea"},{"name":"Rare Disease Center Seoul National University Children's Hospital  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.4.339"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961002)65:1<13::AID-AJMG2>3.0.CO;2-Z"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(52)80205-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.4780111005"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34156"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31738"},{"key":"e_1_2_9_9_1","first-page":"393","volume-title":"Radiographic Atlas of Skeletal Development of the Hand and Wrist","author":"Greulich W. 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