{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:51:39Z","timestamp":1777697499139,"version":"3.51.4"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:00:00Z","timestamp":1492992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Say\u2010Barber\u2010Biesecker\u2010Young\u2010Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by <jats:italic>KAT6B<\/jats:italic> mutation. Genotype\u2013phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a <jats:italic>KAT6B<\/jats:italic> mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS.<\/jats:p>","DOI":"10.1111\/cga.12196","type":"journal-article","created":{"date-parts":[[2016,10,11]],"date-time":"2016-10-11T17:39:13Z","timestamp":1476207553000},"page":"86-88","source":"Crossref","is-referenced-by-count":13,"title":["A Say\u2010Barber\u2010Biesecker\u2010Young\u2010Simpson variant of Ohdo syndrome with a <i>KAT6B<\/i> 10\u2010base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome"],"prefix":"10.1111","volume":"57","author":[{"given":"Yo","family":"Niida","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Multidisciplinary Medical Center Kanazawa Medical University Hospital  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Mitani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine Kanazawa University  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mondo","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine Kanazawa University  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayano","family":"Yokoi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine Kanazawa University  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyasu","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine Kanazawa University  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine Kanazawa University  Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.023"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22141"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.008"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01087.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.248"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12840"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.09.004"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12196","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12196","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12196","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T06:34:08Z","timestamp":1696314848000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,24]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1111\/cga.12196"],"URL":"https:\/\/doi.org\/10.1111\/cga.12196","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,24]]}}}