{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:48:37Z","timestamp":1790833717645,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,9,7]],"date-time":"2004-09-07T00:00:00Z","timestamp":1094515200000},"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":[[2004,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30291","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T08:23:27Z","timestamp":1095150207000},"page":"284-287","source":"Crossref","is-referenced-by-count":26,"title":["The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype"],"prefix":"10.1002","volume":"130A","author":[{"given":"Mustafa","family":"Tekin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asl\u0131","family":"Kavaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merih","family":"Berbero\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suat","family":"Fitoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mesiha","family":"Ekim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6n\u00fcl","family":"\u00d6cal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nejat","family":"Akar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,7]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80495-X"},{"key":"e_1_2_4_4_1","first-page":"191","article-title":"Further delineation of the KBG syndrome","volume":"9","author":"Devriendt K","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-263x.2001.00231.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00792.x"},{"issue":"5","key":"e_1_2_4_7_1","first-page":"7","article-title":"The KBG syndrome\u2014A syndrome of short stature, characteristic facies, mental retardation, macrodontia, and skeletal anomalies","author":"Herrmann J","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_8_1","first-page":"33","article-title":"The KBG syndrome: An additional sporadic case","volume":"11","author":"Mathieu M","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00939.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02647.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00002"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04160.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(12)65408-1"},{"key":"e_1_2_4_14_1","first-page":"437","article-title":"Anomalie dentomaxillo\u2013facciali nella syndrome KBG","volume":"33","author":"Tollaro I","year":"1984","journal-title":"Minerva Stomatol"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520310"}],"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.30291","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30291","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T00:30:09Z","timestamp":1700267409000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30291"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,7]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,10,15]]}},"alternative-id":["10.1002\/ajmg.a.30291"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30291","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,7]]}}}