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
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Is there a genomic link and common pathogenesis (postzygotic mutations in beta-actin) for Poland syndrome and Becker nevus syndrome?
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本文引用的文献
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A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment.
Transl Pediatr. 2021 Apr;10(4):1008-1019. doi: 10.21037/tp-20-320.
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Becker nevus syndrome: A 2020 update.
J Am Acad Dermatol. 2021 Aug;85(2):e101-e103. doi: 10.1016/j.jaad.2021.03.095. Epub 2021 Apr 2.
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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.
BMJ Case Rep. 2021 Jan 28;14(1):e238392. doi: 10.1136/bcr-2020-238392.
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Poland's Syndrome: Are Postzygotic Mutations in β-Actin Associated with its Pathogenesis?
Am J Clin Dermatol. 2018 Feb;19(1):133-134. doi: 10.1007/s40257-017-0330-9.
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Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.
J Invest Dermatol. 2017 Aug;137(8):1795-1798. doi: 10.1016/j.jid.2017.03.017. Epub 2017 Mar 24.
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Poland's syndrome: a concise review of the clinical features highlighting associated dermatologic manifestations.
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Poland syndrome: description of an atypical variant.
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Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.
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