来自土耳其的常染色体隐性先天性鱼鳞病患者中ALOX12B基因的三种新突变 - Suppr

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超能文献

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey.

作者信息

Zorlu Özge, Aşıkovalı Semih

机构信息

Tekirdağ Namık Kemal University Medical Faculty, Dermatology and Venereology Department, Tekirdağ, Turkey.

Tekirdağ Namık Kemal University Medical Faculty, Department of Medical Genetics, Tekirdağ, Turkey.

出版信息

Dermatol Pract Concept. 2025 Jul 31;15(3):5331. doi: 10.5826/dpc.1503a5331.

DOI:10.5826/dpc.1503a5331

PMID:40790439

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12339131/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cbe/12339131/b58d4223d9bc/dp1503a5331g001.jpg

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本文引用的文献

Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.224 例患者大样本队列中或基因突变的荟萃分析

Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080.

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.一个大型英国常染色体隐性鱼鳞病患者队列中的基因型-表型相关性研究

Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.自限性胶样鱼鳞癣的基因型和临床谱：斯堪的纳维亚患者的 ALOX12B、ALOXE3 和 TGM1 突变。

J Invest Dermatol. 2010 Feb;130(2):438-43. doi: 10.1038/jid.2009.346. Epub 2009 Nov 5.

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.由于ALOX12B基因的2种新突变导致的自愈性火棉胶膜和轻度非大疱性先天性鱼鳞病样红皮病。

Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351.

Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.自愈性胶样婴儿：由特定转谷氨酰胺酶-1突变解释的动态表型。

J Invest Dermatol. 2003 Feb;120(2):224-8. doi: 10.1046/j.1523-1747.2003.12032.x.

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