{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T18:55:32Z","timestamp":1762541732016},"reference-count":17,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2008,7,14]],"date-time":"2008-07-14T00:00:00Z","timestamp":1215993600000},"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":[[2008,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marshall\u2013Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall\u2013Smith syndrome, had septo\u2010optic dysplasia. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32430","type":"journal-article","created":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T00:46:34Z","timestamp":1216082794000},"page":"2138-2140","source":"Crossref","is-referenced-by-count":10,"title":["Marshall\u2013Smith syndrome and septo\u2010optic dysplasia: An unreported association"],"prefix":"10.1002","volume":"146A","author":[{"given":"Laura","family":"Travan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Oretti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Floriana","family":"Zennaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Demarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,7,14]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30580"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150068011"},{"key":"e_1_2_4_4_1","first-page":"15","article-title":"Neonatal death in Marshall\u2010Smith syndrome","volume":"9","author":"Chatel C","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050640"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000194408.30794.2f"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.181.1.1909446"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2003000400028"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000114856"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80269-X"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.8.1701"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1991.75.2.0317"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.877"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20417"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199907000-00010"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10507"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.842"}],"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.32430","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32430","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:54:31Z","timestamp":1697615671000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32430"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,14]]},"references-count":17,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2008,8,15]]}},"alternative-id":["10.1002\/ajmg.a.32430"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32430","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,14]]}}}