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Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.

作者信息

Brauns Birka, Schubert Steffen, Lehmann Janin, Laspe Petra, Körner Andrea, Brockmann Knut, Schön Michael P, Emmert Steffen

机构信息

Department of Dermatology, Venereology and Allergology, University Medical Center, Georg August University, Göttingen, Germany.

Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany.

出版信息

Photodermatol Photoimmunol Photomed. 2016 Mar;32(2):110-2. doi: 10.1111/phpp.12225. Epub 2015 Dec 15.

DOI:10.1111/phpp.12225
PMID:26577220
Abstract
摘要

相似文献

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Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.与XPD基因新突变相关的毛发硫营养不良光敏型。
Photodermatol Photoimmunol Photomed. 2016 Mar;32(2):110-2. doi: 10.1111/phpp.12225. Epub 2015 Dec 15.
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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
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Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.XPD基因存在新型剪接突变的毛发硫营养不良患者的基因型-表型关系
Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.
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Novel ERCC2 mutation in two siblings with trichothiodystrophy.两例毛发硫营养不良症同胞患者的新型ERCC2基因突变
Pediatr Dermatol. 2019 Sep;36(5):668-671. doi: 10.1111/pde.13882. Epub 2019 Jul 8.
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A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.一名土耳其型先天性鱼鳞样红皮病患者 XPD 基因突变纯合子与其基因型-表型相关性研究。
J Dermatol. 2012 Dec;39(12):1016-21. doi: 10.1111/j.1346-8138.2012.01662.x. Epub 2012 Oct 5.
6
Analysis of mutations in the XPD gene in a patient with brittle hair.一名头发脆裂患者XPD基因突变分析。
Ann Clin Lab Sci. 2013 Summer;43(3):323-7.
7
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.XPD（ERCC2）基因突变对毛发硫营养不良症或着色性干皮病患者母亲妊娠及产前发育的影响。
Eur J Hum Genet. 2012 Dec;20(12):1308-10. doi: 10.1038/ejhg.2012.90. Epub 2012 May 23.
8
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.对 9 名新鉴定的 XPD 缺陷患者进行功能和分子遗传学分析，揭示了一种新的突变，导致 TTD 以及 XP/CS 复合表型。
Exp Dermatol. 2013 Jul;22(7):486-9. doi: 10.1111/exd.12166.
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Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.毛发硫营养不良和着色性干皮病患者来源的XPD突变成纤维细胞核苷酸切除修复缺陷的比较研究。
DNA Repair (Amst). 2008 Dec 1;7(12):1990-8. doi: 10.1016/j.dnarep.2008.08.009. Epub 2008 Oct 10.
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Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction.随意进食的Xpd（TTD）小鼠的加速衰老病理学伴随着提示热量限制的特征。
DNA Repair (Amst). 2005 Nov 21;4(11):1314-24. doi: 10.1016/j.dnarep.2005.07.002. Epub 2005 Aug 22.

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Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.你知道这种综合征吗？鱼鳞病伴神经系统疾病和毛发改变。
An Bras Dermatol. 2018 Jan-Feb;93(1):135-137. doi: 10.1590/abd1806-4841.20187727.