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Mutations of the epigenetic genes <jats:italic>KMT2D<\/jats:italic> and <jats:italic>KDM6A<\/jats:italic> cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12\u2010year\u2010old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. \u03a4his is the first report of giant cell fibroblastoma \u2010a rare tumor of childhood\u2010 in a patient with Kabuki syndrome. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37584","type":"journal-article","created":{"date-parts":[[2016,2,22]],"date-time":"2016-02-22T11:14:50Z","timestamp":1456139690000},"page":"1333-1338","source":"Crossref","is-referenced-by-count":21,"title":["Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited"],"prefix":"10.1002","volume":"170","author":[{"given":"Paraskevi","family":"Karagianni","sequence":"first","affiliation":[{"name":"Department of Neonatology and B\u2019 NICU (Neonatal Intensive Care Unit) Aristotle University of Thessaloniki, General Hospital Papageorgiou Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassilios","family":"Lambropoulos","sequence":"additional","affiliation":[{"name":"Second Department of Pediatric Surgery Aristotle University of Thessaloniki, General Hospital Papageorgiou Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothea","family":"Stergidou","sequence":"additional","affiliation":[{"name":"Department of Neonatology and B\u2019 NICU (Neonatal Intensive Care Unit) Aristotle University of Thessaloniki, General Hospital Papageorgiou Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Fryssira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens School of Medicine, \u201cAghia Sophia\u201d Children's Hospital Goudi Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilias","family":"Chatziioannidis","sequence":"additional","affiliation":[{"name":"Department of Neonatology and B\u2019 NICU (Neonatal Intensive Care Unit) Aristotle University of Thessaloniki, General Hospital Papageorgiou Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Spyridakis","sequence":"additional","affiliation":[{"name":"Second Department of Pediatric Surgery Aristotle University of Thessaloniki, General Hospital Papageorgiou Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2006.00042.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1271-x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33711"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.02.032"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5070\/D37FF8819J","article-title":"Kabuki syndrome: A new case associated with Becker nevus","volume":"17","author":"Cuesta L","year":"2011","journal-title":"Dermatol Online J"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/(SICI)1098-2264(199601)15:1<73::AID-GCC10>3.0.CO;2-Q","article-title":"Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans","volume":"15","author":"Dal Cin P","year":"1996","journal-title":"Genes Chromosomes Cancer"},{"key":"e_1_2_6_8_1","first-page":"831","article-title":"CD34+ stromal cells\/fibroblasts\/fibrocytes\/telocytes as a tissue reserve and a principal source of mesenchymal cells. 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