{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T12:20:57Z","timestamp":1775737257741,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":3721,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe clinical manifestations and historical data on ten patients with Kabuki make\u2010up syndrome. All patients are of European ancestry and all have the characteristics of the syndrome, including typical face, retarded physical development, and mild to moderate mental retardation. Two of the probands have low\u2010normal intelligence. Prominent and broad philtrum was described as an important component manifestation of the syndrome. In three families some clinical manifestations of Kabuki make\u2010up syndrome were observed in parents and some other relatives of the probands in three generations. Some phenotypic differences between Asian and non\u2010Asian patients were noted. The possible cause of the syndrome is discussed. The present observations and a literature review suggest autosomal dominant inheritance with different expressivity of the Kabuki make\u2010up syndrome. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560202","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:59:25Z","timestamp":1118512765000},"page":"127-131","source":"Crossref","is-referenced-by-count":47,"title":["Kabuki make\u2010up (Niikawa\u2010Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations"],"prefix":"10.1002","volume":"56","author":[{"given":"Helena","family":"Ilyina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iosif","family":"Lurie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irena","family":"Naumtchik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry","family":"Amoashy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galina","family":"Stephanenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valery","family":"Fedotov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albina","family":"Kostjuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80328-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03599.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330317"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.60.92"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(86)90550-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80074-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_2_1_9_1","unstructured":"MajewskiF MullerD MeineckeP TariverdianG HosenfeldD(1991):The Kabuki make\u2010up syndrome: Report of six Caucasian patients. In 3. Tagung der Gesellschaft fur Humangenetik (abstract) Ulm:105."},{"key":"e_1_2_1_10_1","first-page":"103","article-title":"Kabuki make\u2010up syndrome in a Caucasian","volume":"3","author":"Meinecke P","year":"1989","journal-title":"Dysmorph Clin Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.2.126"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818609076116"},{"key":"e_1_2_1_15_1","first-page":"312","article-title":"Kabuki makeup syndrome (Niikawa\u2010Kuruki syndrome) in a Black child","volume":"21","author":"Pebenito R","year":"1989","journal-title":"Ann Ophthalmol"},{"key":"e_1_2_1_16_1","first-page":"340A","article-title":"Niikawa\u2010Kuroki syndrome (Kabuki make\u2010up syndrome) in a Hispanic child","volume":"20","author":"Sheikh TM","year":"1986","journal-title":"Pediatr Rad"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320560202","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320560202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:03:11Z","timestamp":1698332591000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320560202"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,3,27]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,3,27]]}},"alternative-id":["10.1002\/ajmg.1320560202"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320560202","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,3,27]]}}}