Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
作者信息
Gürbüz Fatih, Özalp Yüreğir Özge, Ceylaner Serdar, Topaloğlu Ali Kemal, Yüksel Bilgin
机构信息
Ankara Pediatric Hematology and Oncology Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey, E-mail:
出版信息
J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):105-6. doi: 10.4274/jcrpe.2686. Epub 2015 Dec 18.
Abstract
摘要
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本文引用的文献
1
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.Kabuki 综合征患者支气管异构，MLL2 基因突变。
BMC Med Genet. 2014 Jan 28;15:15. doi: 10.1186/1471-2350-15-15.
2
Autoimmune haematological disorders in two Italian children with Kabuki syndrome.两名意大利卡布列综合征患儿的自身免疫性血液系统疾病。
Ital J Pediatr. 2014 Jan 25;40:10. doi: 10.1186/1824-7288-40-10.
3
KDM6A point mutations cause Kabuki syndrome.KDM6A 点突变导致歌舞伎综合征。
Hum Mutat. 2013 Jan;34(1):108-10. doi: 10.1002/humu.22229. Epub 2012 Oct 17.
4
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.外显子组测序鉴定出 MLL2 突变是歌舞伎综合征的一个病因。
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
5
Autoimmune disorders in Kabuki syndrome.
Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332.
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