{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:02Z","timestamp":1747149542626,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,28]],"date-time":"2021-03-28T00:00:00Z","timestamp":1616889600000},"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":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis\u2010like musculoskeletal anomalies (club\u2010feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the <jats:italic>CREBBP<\/jats:italic> gene. Findings indicate this gene to be dosage\u2010sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13.3 microduplication in a fetus with mid\u2010trimester sonographic examination showing absent nasal bone and transient unilateral hydronephrosis.<\/jats:p>","DOI":"10.1002\/jcu.23007","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T01:30:20Z","timestamp":1616981420000},"page":"622-624","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mid\u2010trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication"],"prefix":"10.1002","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1764-8797","authenticated-orcid":false,"given":"David M.","family":"Sherer","sequence":"first","affiliation":[{"name":"The Division of Maternal\u2010Fetal Medicine, The Department of Obstetrics and Gynecology State University of New York (SUNY), Downstate Health Sciences University  Brooklyn New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicky","family":"Hsieh","sequence":"additional","affiliation":[{"name":"The Division of Maternal\u2010Fetal Medicine, The Department of Obstetrics and Gynecology State University of New York (SUNY), Downstate Health Sciences University  Brooklyn New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mila","family":"Kheyman","sequence":"additional","affiliation":[{"name":"The Division of Maternal\u2010Fetal Medicine, The Department of Obstetrics and Gynecology State University of New York (SUNY), Downstate Health Sciences University  Brooklyn New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Field","sequence":"additional","affiliation":[{"name":"The Division of Maternal\u2010Fetal Medicine, The Department of Obstetrics and Gynecology State University of New York (SUNY), Downstate Health Sciences University  Brooklyn New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mudar","family":"Dalloul","sequence":"additional","affiliation":[{"name":"The Division of Maternal\u2010Fetal Medicine, The Department of Obstetrics and Gynecology State University of New York (SUNY), Downstate Health Sciences University  Brooklyn New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2002.119082"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.170"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2006.25.3.387"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070573"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.12.006"},{"key":"e_1_2_5_7_1","unstructured":"NorthrupH KoenigMK PearsonDA et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2020 Apr 16]. In:AdamMP ArdingerHH PagonRA et al. editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle; 1993\u20102021. Available from:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1220\/."},{"key":"e_1_2_5_8_1","unstructured":"PC Harris VE Torres"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.09.005"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055202"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.23007","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcu.23007","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.23007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T17:11:08Z","timestamp":1693415468000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.23007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,28]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/jcu.23007"],"URL":"https:\/\/doi.org\/10.1002\/jcu.23007","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"type":"print","value":"0091-2751"},{"type":"electronic","value":"1097-0096"}],"subject":[],"published":{"date-parts":[[2021,3,28]]},"assertion":[{"value":"2020-12-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}