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Can postzygotic mutation in beta-actin be a common genetic etiology for Poland's syndrome and Becker's nevus syndrome?

作者信息

Chandran Suresh, Quek Bin Huey, Hashim Eman Awadh Abduladheem

机构信息

Department of Neonatology, KK Women's and Children's Hospital, Singapore, Singapore.

Pediatric Academic Clinical Program, Lee Kong Chian School of Medicine, Singapore, Singapore.

出版信息

Transl Pediatr. 2021 Oct;10(10):2641-2642. doi: 10.21037/tp-21-436.

DOI:10.21037/tp-21-436
PMID:34765489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8578790/
Abstract
摘要

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1
Can postzygotic mutation in beta-actin be a common genetic etiology for Poland's syndrome and Becker's nevus syndrome?β-肌动蛋白的合子后突变能否成为波兰综合征和贝克痣综合征常见的遗传病因？
Transl Pediatr. 2021 Oct;10(10):2641-2642. doi: 10.21037/tp-21-436.
2
Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.β-肌动蛋白的合子后突变与贝克痣及贝克痣综合征相关。
J Invest Dermatol. 2017 Aug;137(8):1795-1798. doi: 10.1016/j.jid.2017.03.017. Epub 2017 Mar 24.
3
Becker's Nevus Syndrome.贝克尔痣综合征
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4
Poland's Syndrome: Are Postzygotic Mutations in β-Actin Associated with its Pathogenesis?波兰综合征：β-肌动蛋白的合子后突变与其发病机制有关吗？
Am J Clin Dermatol. 2018 Feb;19(1):133-134. doi: 10.1007/s40257-017-0330-9.
5
Becker's Nevus and Lethal Beta-Actin Mutations.贝克尔痣与致死性β-肌动蛋白突变
J Invest Dermatol. 2017 Aug;137(8):1619-1621. doi: 10.1016/j.jid.2017.04.003. Epub 2017 Jun 16.
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Comprehensive Treatment of a Skeletal Class III Growing Patient with Alveolar Bone Hypertrophy in the Anterior Mandible Associated with Becker's Nevus Syndrome: A Case Report.伴有贝克痣综合征的下颌前部牙槽骨肥大的骨性Ⅲ类生长发育期患者的综合治疗：一例报告
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Patient with giant Becker's nevus and epidermal nevus.患有巨大贝克痣和表皮痣的患者。
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[Becker's nevus and hemimaxillary hypoplasia: coincidence or syndrome?].[贝克尔痣与半侧上颌骨发育不全：巧合还是综合征？]
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引用本文的文献

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Becker's Nevus in a Male: A Case Report.男性贝克尔痣：一例报告
Cureus. 2023 Sep 11;15(9):e45005. doi: 10.7759/cureus.45005. eCollection 2023 Sep.

本文引用的文献

1
A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment.波兰综合征的叙述性综述：其成因、演变、诊断及治疗的理论
Transl Pediatr. 2021 Apr;10(4):1008-1019. doi: 10.21037/tp-20-320.
2
Becker nevus syndrome: A 2020 update.贝克尔痣综合征：2020年更新
J Am Acad Dermatol. 2021 Aug;85(2):e101-e103. doi: 10.1016/j.jaad.2021.03.095. Epub 2021 Apr 2.
3
Poland's Syndrome: Are Postzygotic Mutations in β-Actin Associated with its Pathogenesis?波兰综合征：β-肌动蛋白的合子后突变与其发病机制有关吗？
Am J Clin Dermatol. 2018 Feb;19(1):133-134. doi: 10.1007/s40257-017-0330-9.
4
Becker's Nevus and Lethal Beta-Actin Mutations.贝克尔痣与致死性β-肌动蛋白突变
J Invest Dermatol. 2017 Aug;137(8):1619-1621. doi: 10.1016/j.jid.2017.04.003. Epub 2017 Jun 16.
5
Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.β-肌动蛋白的合子后突变与贝克痣及贝克痣综合征相关。
J Invest Dermatol. 2017 Aug;137(8):1795-1798. doi: 10.1016/j.jid.2017.03.017. Epub 2017 Mar 24.
6
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.锁骨下动脉供血中断序列：关于波兰综合征、克利佩尔-费尔综合征和莫比乌斯畸形血管病因的假说
Am J Med Genet. 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405.