{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T06:39:45Z","timestamp":1711435185706},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,9,23]],"date-time":"2016-09-23T00:00:00Z","timestamp":1474588800000},"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":[[2017,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>We herein report a de novo hemizygous 9.2\u2010Mb interstitial deletion of chromosome 11p14.1\u201015.3 in a 3\u2010year\u2010old Japanese girl with short stature, relative macrocephaly, and delayed closure of cranial fontanelles and sutures. She did not show either any motor or mental development delay. This deletion involves 25 genes including <jats:italic>NELL1<\/jats:italic>. The loss of the Nell1 function leads to skeletal defects in the cranial vault and vertebral column, and overexpression of <jats:italic>Nell1<\/jats:italic> causes craniosynostosis in mice. These results imply that short stature and an abnormality of membranous ossification could be explained by haploinsufficiency of <jats:italic>NELL1<\/jats:italic> on 11p14.1\u2010p15.3. Further studies are needed to clarify the phenotype in patients with an 11p14.1\u201015.3 deletion and the pathogenesis of <jats:italic>NELL1<\/jats:italic>. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37978","type":"journal-article","created":{"date-parts":[[2016,9,23]],"date-time":"2016-09-23T13:53:52Z","timestamp":1474638832000},"page":"217-220","source":"Crossref","is-referenced-by-count":5,"title":["Identification of 11p14.1\u2010p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles"],"prefix":"10.1002","volume":"173","author":[{"given":"Sumito","family":"Dateki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Nagasaki University Hospital Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University Hospital Nagasaki Japan"},{"name":"Department of Human Genetics Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiko","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University Hospital Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koh\u2010ichiro","family":"Yoshiura","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Moriuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University Hospital Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.013"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl053"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/71626"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1542\/peds.61.4.604","article-title":"Chromosomal imbalance in the Aniridia\u2013Wilms\u2019 tumor association: 11p interstitial deletion","volume":"61","author":"Riccardi VM","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00588.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450512"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33878"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.1.80"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.061012"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI15375"}],"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.37978","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37978","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37978","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T14:59:26Z","timestamp":1696604366000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37978"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,23]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1002\/ajmg.a.37978"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37978","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,23]]}}}