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Cancer predisposition in children with Kabuki syndrome.

作者信息

Casanova Michela, Selicorni Angelo, Ferrari Andrea

出版信息

Am J Med Genet A. 2011 Jun;155A(6):1504. doi: 10.1002/ajmg.a.33711. Epub 2011 May 5.

DOI:10.1002/ajmg.a.33711

PMID:21548020

Abstract

摘要

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相似文献

Cancer predisposition in children with Kabuki syndrome.

Am J Med Genet A. 2011 Jun;155A(6):1504. doi: 10.1002/ajmg.a.33711. Epub 2011 May 5.

Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab.

Int J Hematol. 2017 May;105(5):702-703. doi: 10.1007/s12185-016-2176-y. Epub 2017 Jan 30.

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Pediatr Dermatol. 2013 Mar-Apr;30(2):253-5. doi: 10.1111/j.1525-1470.2011.01718.x. Epub 2012 Feb 3.

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J Pediatr Hematol Oncol. 2019 Mar;41(2):e114-e115. doi: 10.1097/MPH.0000000000001182.

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

BMC Med Genet. 2015 Sep 5;16:80. doi: 10.1186/s12881-015-0228-4.

Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.

Pediatr Neurol. 2010 Aug;43(2):148-50. doi: 10.1016/j.pediatrneurol.2010.03.019.

Salzmann nodular degeneration features in a case of Kabuki make-up syndrome.

BMJ Case Rep. 2019 May 30;12(5):e228010. doi: 10.1136/bcr-2018-228010.

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome.

J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):218-219. doi: 10.4274/jcrpe.galenos.2018.2018.0193. Epub 2018 Oct 23.

New fundus findings in a case of Kabuki syndrome.

Eye (Lond). 2009 Jun;23(6):1483-5. doi: 10.1038/eye.2008.227. Epub 2008 Jul 25.

Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome.

Eur J Intern Med. 2019 Nov;69:e3-e5. doi: 10.1016/j.ejim.2019.08.003. Epub 2019 Aug 16.

引用本文的文献

From Genotype to Phenotype-A Review of Kabuki Syndrome.

Genes (Basel). 2022 Sep 29;13(10):1761. doi: 10.3390/genes13101761.

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Fam Cancer. 2023 Jan;22(1):103-118. doi: 10.1007/s10689-022-00306-z. Epub 2022 Jul 19.

Challenges in Diagnosis and Treatment of Lung Cancer in People with Intellectual Disabilities: Current State of Knowledge.

Lung Cancer Int. 2016;2016:6787648. doi: 10.1155/2016/6787648. Epub 2016 Sep 26.

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Korean J Pediatr. 2015 Sep;58(9):317-24. doi: 10.3345/kjp.2015.58.9.317. Epub 2015 Sep 21.

Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Immunol Res. 2016 Apr;64(2):345-59. doi: 10.1007/s12026-015-8707-4.

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

BMC Med Genet. 2015 Sep 5;16:80. doi: 10.1186/s12881-015-0228-4.

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Hum Genomics. 2015 Jun 20;9(1):12. doi: 10.1186/s40246-015-0034-2.

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Am J Hum Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub 2011 Dec 22.