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唐氏综合征和急性淋巴细胞白血病患儿中易感基因的种系变异。

Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia.

作者信息

Winer Peleg, Muskens Ivo S, Walsh Kyle M, Vora Ajay, Moorman Anthony V, Wiemels Joseph L, Roberts Irene, Roy Anindita, de Smith Adam J

机构信息

Center for Genetic Epidemiology, University of Southern California, Los Angeles, CA.

Department of Neurosurgery, Duke University, Durham, NC.

出版信息

Blood Adv. 2020 Feb 25;4(4):672-675. doi: 10.1182/bloodadvances.2019001216.

DOI:10.1182/bloodadvances.2019001216
PMID:32084258
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7042982/
Abstract

Rare and pathogenic germline variants, including in , contribute to acute lymphoblastic leukemia in children with Down syndrome.

摘要

罕见的致病性种系变异，包括在……中的变异，会导致唐氏综合征患儿患急性淋巴细胞白血病。 （注：原文中“including in”后面内容缺失，所以译文不太完整准确）

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本文引用的文献

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Blood. 2019 Oct 10;134(15):1227-1237. doi: 10.1182/blood.2018890764.
2
Heritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome.21号染色体基因ERG的遗传变异与唐氏综合征患儿及非唐氏综合征患儿的急性淋巴细胞白血病风险相关。
Leukemia. 2019 Nov;33(11):2746-2751. doi: 10.1038/s41375-019-0514-9. Epub 2019 Jul 11.
3
Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.胚系 IKZF1 基因突变与儿童急性淋巴细胞白血病易感性。
Cancer Cell. 2018 May 14;33(5):937-948.e8. doi: 10.1016/j.ccell.2018.03.021. Epub 2018 Apr 19.
4
Heterozygous variants in bone marrow failure and myeloid neoplasms.骨髓衰竭和髓系肿瘤中的杂合性变异。
Blood Adv. 2018 Jan 4;2(1):36-48. doi: 10.1182/bloodadvances.2017008110. eCollection 2018 Jan 9.
5
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.胚系 IKZF1 突变的人类受试者中的造血异常和自身免疫。
J Allergy Clin Immunol. 2017 Jul;140(1):223-231. doi: 10.1016/j.jaci.2016.09.029. Epub 2016 Dec 6.
6
Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers.与端粒长度相关的常见基因变异会增加神经母细胞瘤和其他儿童癌症的发病风险。
Carcinogenesis. 2016 Jun;37(6):576-582. doi: 10.1093/carcin/bgw037. Epub 2016 Apr 1.
7
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