Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient.
作者信息
Conway Jade, Henry Tanya J, Cohen Lilian L, Ricardo Jose W, Lipner Shari R
机构信息
School of Medicine, New York Medical College, Valhalla, New York.
College of Medicine, University of Illinois at Chicago, Chicago, Illinois.
出版信息
JAAD Case Rep. 2023 Nov 26;43:69-71. doi: 10.1016/j.jdcr.2023.11.013. eCollection 2024 Jan.
Abstract
摘要
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本文引用的文献
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One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype-phenotype correlation analysis.
J Dermatol. 2023 Aug;50(8):e230-e231. doi: 10.1111/1346-8138.16753. Epub 2023 Feb 16.
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Leukonychia: What Can White Nails Tell Us?
Am J Clin Dermatol. 2022 Mar;23(2):177-193. doi: 10.1007/s40257-022-00671-6. Epub 2022 Feb 2.
3
Identification of two novel mutations in the gene in Chinese patients with hereditary leukonychia.
Mol Med Rep. 2021 Jun;23(6). doi: 10.3892/mmr.2021.12052. Epub 2021 Mar 31.
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A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.
J Invest Dermatol. 2019 Oct;139(10):2154-2163.e5. doi: 10.1016/j.jid.2019.04.015. Epub 2019 May 11.
5
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.
J Hum Genet. 2018 Oct;63(10):1071-1076. doi: 10.1038/s10038-018-0491-2. Epub 2018 Jul 23.
6
Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia.
J Cosmet Dermatol. 2019 Jun;18(3):912-915. doi: 10.1111/jocd.12707. Epub 2018 Jul 12.
7
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Am J Hum Genet. 2011 Jun 10;88(6):839-844. doi: 10.1016/j.ajhg.2011.05.014.
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