Is there a genomic link and common pathogenesis (postzygotic mutations in beta-actin) for Poland syndrome and Becker nevus syndrome?
作者信息
Cohen Philip R
机构信息
Department of Dermatology, University of California, Davis Medical Center, Sacramento, CA, USA.
Touro University California College of Osteopathic Medicine, Vallejo, CA, USA.
出版信息
Transl Pediatr. 2021 Oct;10(10):2639-2640. doi: 10.21037/tp-21-409.
Abstract
摘要
相似文献
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Is there a genomic link and common pathogenesis (postzygotic mutations in beta-actin) for Poland syndrome and Becker nevus syndrome?波兰综合征和贝克痣综合征之间是否存在基因组联系和共同发病机制（β-肌动蛋白的合子后突变）？
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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？
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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
Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.强化波兰氏综合征发病的血管破坏理论：一例罕见的早产儿膈肌膨出伴严重骨骼肌肉缺陷。
BMJ Case Rep. 2021 Jan 28;14(1):e238392. doi: 10.1136/bcr-2020-238392.
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
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
Poland's syndrome: a concise review of the clinical features highlighting associated dermatologic manifestations.波兰氏综合征：临床特征简明回顾，重点阐述相关皮肤表现。
Am J Clin Dermatol. 2015 Aug;16(4):295-301. doi: 10.1007/s40257-015-0132-x.
7
Poland syndrome: description of an atypical variant.波兰综合征：一种非典型变异型的描述。
Aesthetic Plast Surg. 2005 Jan-Feb;29(1):32-3. doi: 10.1007/s00266-004-0047-z. Epub 2005 Mar 10.
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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.
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