查纳林-多夫曼综合征：ABHD5基因中的一种新型纯合突变。 - Suppr

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Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.

作者信息

Al-Hage J, Abbas O, Nemer G, Kurban M

机构信息

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.

出版信息

Clin Exp Dermatol. 2020 Mar;45(2):257-259. doi: 10.1111/ced.14062. Epub 2019 Sep 4.

DOI:10.1111/ced.14062

PMID:31486100

Abstract

摘要

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Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.

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引用本文的文献

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Front Genet. 2022 Mar 28;13:847321. doi: 10.3389/fgene.2022.847321. eCollection 2022.

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Adv Exp Med Biol. 2020;1276:197-222. doi: 10.1007/978-981-15-6082-8_13.

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Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.

作者信息

Al-Hage J, Abbas O, Nemer G, Kurban M

机构信息

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.

出版信息

Clin Exp Dermatol. 2020 Mar;45(2):257-259. doi: 10.1111/ced.14062. Epub 2019 Sep 4.

DOI:10.1111/ced.14062

PMID:31486100

Abstract

摘要

相似文献

Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.

Clin Exp Dermatol. 2020 Mar;45(2):257-259. doi: 10.1111/ced.14062. Epub 2019 Sep 4.

Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6.

J Dermatol Sci. 2014 Sep;75(3):199-201. doi: 10.1016/j.jdermsci.2014.05.009. Epub 2014 Jun 8.

Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

Gene. 2016 Jan 10;575(2 Pt 1):359-62. doi: 10.1016/j.gene.2015.09.004. Epub 2015 Sep 6.

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.

Int J Dermatol. 2021 Jul;60(7):904-906. doi: 10.1111/ijd.15432. Epub 2021 Feb 11.

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

J Dermatol Sci. 2016 Feb;81(2):134-6. doi: 10.1016/j.jdermsci.2015.10.015. Epub 2015 Oct 27.

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

Lipids Health Dis. 2019 Dec 28;18(1):232. doi: 10.1186/s12944-019-1181-6.

A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene.

Iran Biomed J. 2018 Nov;22(6):415-9. doi: 10.29252/.22.6.415. Epub 2018 Feb 24.

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.

Eur J Med Genet. 2015 Apr;58(4):238-42. doi: 10.1016/j.ejmg.2015.01.011. Epub 2015 Feb 14.

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.

Pediatr Dermatol. 2014 Sep-Oct;31(5):612-4. doi: 10.1111/pde.12170. Epub 2013 Jun 12.

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.

Turk J Pediatr. 2015 May-Jun;57(3):300-3.

引用本文的文献

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Front Genet. 2022 Mar 28;13:847321. doi: 10.3389/fgene.2022.847321. eCollection 2022.

CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

Adv Exp Med Biol. 2020;1276:197-222. doi: 10.1007/978-981-15-6082-8_13.