{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T03:19:34Z","timestamp":1765423174046,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T00:00:00Z","timestamp":1594944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sotos syndrome is one of the overgrowth syndromes, and can present with intellectual disability, behavioral problems and tall stature. In some cases, seizures, pectus deformity, cardiac and renal anomalies may be identified. Here we report two Indian children with Sotos syndrome whose initial presentation was macrocephaly and behavioral problems, respectively. The pathogenic variants in <jats:italic>NSD1<\/jats:italic> gene were confirmed by next generation sequencing. The gene variants in the two children, one male and one female; were <jats:italic>NSD1<\/jats:italic>: c.2362C&gt;T and <jats:italic>NSD1<\/jats:italic>: c.5474dup, respectively, leading to premature termination of protein formation.<\/jats:p>","DOI":"10.1002\/ajmg.a.61751","type":"journal-article","created":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T09:15:41Z","timestamp":1594977341000},"page":"2181-2183","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Sotos syndrome in two children from India"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"first","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics APC, PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics APC, PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,17]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_2_1","DOI":"10.1002\/ajmg.c.31738"},{"doi-asserted-by":"publisher","key":"e_1_2_8_3_1","DOI":"10.1002\/ajmg.a.61062"},{"doi-asserted-by":"publisher","key":"e_1_2_8_4_1","DOI":"10.1136\/jmg.40.4.285"},{"unstructured":"Online Mendelian Inheritance in Man OMIM\u2122. (2020). McKusick\u2010Nathans Institute of Genetic Medicine John Hopkins University (Baltimore MD) and National Center foe Biotechnology Information National Library of Medicine (Bethesda MD). Retrieved fromhttp:\/\/www.ncbi.nlm.nih.gov\/omim\/.","key":"e_1_2_8_5_1"},{"doi-asserted-by":"publisher","key":"e_1_2_8_6_1","DOI":"10.1086\/432082"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61751","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61751","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61751","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61751","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T06:01:00Z","timestamp":1744956060000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61751"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,17]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/ajmg.a.61751"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61751","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,7,17]]},"assertion":[{"value":"2020-02-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}