{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:14:38Z","timestamp":1761718478639},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,11,17]],"date-time":"2016-11-17T00:00:00Z","timestamp":1479340800000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Practical Research Project for Rare\/Intractable Diseases from Japan Agency for Medical Research and Development (AMED)"},{"name":"Japan Society for the Promotion of Science (JSPS) KAKENHI","award":["15K09631"],"award-info":[{"award-number":["15K09631"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up\u2010slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot. Although the deleted region includes the genes responsible for neurological impairments (<jats:italic>GNOA1<\/jats:italic>, <jats:italic>GPR56<\/jats:italic>, <jats:italic>KATNB1<\/jats:italic>, and <jats:italic>BBS2<\/jats:italic>), haploinsufficiency of these genes would not be associated with the patient's phenotype. When <jats:italic>NDRG4<\/jats:italic>, present in the deleted region, was knocked out in mice, these mice exhibited spatial learning deficits. Thus, we hypothesize that this gene could be a potential candidate underlying the neurological observations of the patient. Because <jats:italic>RSPRY1<\/jats:italic> was been discovered as the cause of progressive skeletal dysplasia, a loss of this gene might explain the skeletal defects observed in the patient.<\/jats:p>","DOI":"10.1111\/cga.12172","type":"journal-article","created":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T06:46:47Z","timestamp":1464331607000},"page":"253-255","source":"Crossref","is-referenced-by-count":7,"title":["A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features"],"prefix":"10.1111","volume":"56","author":[{"given":"Toshiyuki","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sawako","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Niigata City General Hospital  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanju","family":"Ikeno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Niigata City General Hospital  Niigata Japan"},{"name":"Department of Pediatrics Kanazawa Medical University  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Epilepsy Center Nishi\u2010Niigata Chuo National Hospital  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01094.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01262.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33580"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.12.014"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.014"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12112"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.256446"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12172","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12172","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T03:19:13Z","timestamp":1696389553000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1111\/cga.12172"],"URL":"https:\/\/doi.org\/10.1111\/cga.12172","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11]]}}}