{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,24]],"date-time":"2023-12-24T14:52:09Z","timestamp":1703429529914},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,12,2]],"date-time":"2005-12-02T00:00:00Z","timestamp":1133481600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 17\u2010month\u2010old girl with clinical manifestations of Nevo syndrome and <jats:italic>NSD1<\/jats:italic> (nuclear receptor binding SET domain protein 1) deletion is described. Nevo syndrome is a rare overgrowth syndrome showing considerable phenotypic overlap with Sotos syndrome\u2014another, more frequent overgrowth syndrome caused by <jats:italic>NSD1<\/jats:italic> mutations or deletions. About a half of Japanese Sotos syndrome patients carry a 2.2\u2010Mb common deletion encompassing <jats:italic>NSD1<\/jats:italic> and present with frequent brain, cardiovascular, or urinary tract anomalies. The girl we described had the common deletion and showed patent ductus arteriosus, atrial septal defect, vesicoureteral reflux, and bilateral hydronephrosis. It was thus concluded that the clinical manifestations, including the Nevo syndrome phenotype, were caused by the microdeletion. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30776","type":"journal-article","created":{"date-parts":[[2005,12,2]],"date-time":"2005-12-02T22:48:05Z","timestamp":1133563685000},"page":"70-73","source":"Crossref","is-referenced-by-count":2,"title":["Nevo syndrome with an <i>NSD1<\/i> deletion: A variant of Sotos syndrome?"],"prefix":"10.1002","volume":"140A","author":[{"given":"Nobuko","family":"Kanemoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuyoshi","family":"Kanemoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Kamoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Remco","family":"Visser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,2]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.5.366"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.571"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<67::AID-AJMG12>3.0.CO;2-N"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199510000-00007"},{"key":"e_1_2_4_6_1","first-page":"197","article-title":"Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion","volume":"279","author":"Kurotaki N","year":"2003","journal-title":"Hum Mutat"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.285"},{"key":"e_1_2_4_8_1","first-page":"187","article-title":"Evidence for autosomal recessive inheritance in cerebral gigantism","volume":"25","author":"Nevo S","year":"1974","journal-title":"J Med Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30776","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30776","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T05:49:29Z","timestamp":1700027369000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,2]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/ajmg.a.30776"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30776","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12,2]]}}}