{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T11:40:17Z","timestamp":1696678817777},"reference-count":7,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"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":[[2016,9]]},"abstract":"<jats:sec><jats:label \/><jats:p>5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6\u2009Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep\u2010set eyes, prominent columella, long philtrum, thin lips). \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37824","type":"journal-article","created":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T05:43:27Z","timestamp":1467611007000},"page":"2445-2448","source":"Crossref","is-referenced-by-count":4,"title":["A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features"],"prefix":"10.1002","volume":"170","author":[{"given":"Paolo","family":"Fontana","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II University of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Tortora","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II University of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Petillo","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine Cardiomiology and Medical Genetics Second University of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariateresa","family":"Falco","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II University of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Miniero","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II University of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"De Brasi","sequence":"additional","affiliation":[{"name":"Service of Medical Genetics Cardarelli Hospital Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Antonietta","family":"Pisanti","sequence":"additional","affiliation":[{"name":"Service of Medical Genetics Cardarelli Hospital Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,4]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.84"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.23.8773-8785.2003"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1195-6"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14107"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0513-9"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36680"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1369\/0022155412440001"}],"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.37824","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37824","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37824","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:38:56Z","timestamp":1696635536000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37824"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,4]]},"references-count":7,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1002\/ajmg.a.37824"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37824","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,4]]}}}